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Medical Genetics

Indications for Genetic Evaluation
Indications for Chromosome Analysis in Assisted Fertilization
Guidelines for Genetic Screening to Detect Heterozygotes (Carrier Detection)
Number Needed to Screen (NNS)
Detection of Maternal Cell Contamination Affecting Genetic Analysis
Ethical Guidelines of Ross and Moon for Genetic Testing of a Child
Data of Macpherson et al for Predicting the Probability of Successful In Vitro Tissue Culture Growth from a Stillborn Fetus or Newborn Infant
Indications to Screen for Subtelomeric Defects in a Patient with Mental Retardation
General Characteristics of Genetic Disorders With Mendelian Inheritance
Hardy-Weinberg Formula
Direct Count of Gene Frequencies
Risk of Huntington's Chorea in a Healthy First Degree Relative with an Affected Parent
Risk of Huntington's Chorea in a Healthy Second Degree Relative with Unaffected Parent
Age of Onset of Huntington's Chorea Based on the CAG Repeat Size
Cognitive and Psychiatric Manifestations of Huntington's Chorea
Clinical Features of Huntington Disease-Like 2 (HDL2)
Clinical Featurs of Huntington Disease (HD)
Implications of the Number of CAG Repeats in an HTT Allele
Equation of Friedman for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History
Equation of Young for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History
Recurrence Risk for Germinal Mosaics
Estimating the Risk of Recurrence in a Relative When One Person Affected
Predicting Risk of Recurrence for Congenital Heart Disease
Risk of Recurrence for Down's Syndrome in the Offspring of a Woman with a Previously Affected Infant
Risk of Recurrence of a Cleft Lip and/or Palate
Predicting Risk of Recurrence in Hirschsprung's Disease
Recurrence Risk of Pyloric Stenosis
Risk of Recurrence of Achondroplasia
Empiric Risk of Retinoblastoma in the Offspring of a Patient with a Family History of Retinoblastoma
Probability of an RB1 Germline Mutation in a Proband with Retinoblastoma
Use of Bayes Theorem to Calculate the Risk of Being a Carrier
Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Sons
Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman Who is the Daughter of an Obligate Carrier and Who Has Normal Grandsons
Risk of Being a Carrier for an X-Linked Recessive Condition in a Woman with One Affected Son
Calculating the Lod Score from Family Data with Phase Known Meioses
Calculating the Lod Score from Family Data with Phase Unknown Meioses
Calculating the Number of Recombination Events Over the Total Number of Meioses Using the Maximum Lod Score
Mapping Functions of Haldane and Kosambi
Addition of Adjacent Intervals in Genetic Maps
Li-Mantel Method for Correction of Truncate Ascertainment in Families with Two Offspring
Sib Method for Correction of Single Ascertainment
Frequency of Autosomal Recessive Disease in Consanguineous Mating
Evaluating a Child for Evidence of Incest Based on the Number of Homozygous Alleles
Evaluation of a Mother and Offspring for Evidence of Incest Based on Analysis of Alleles at Highly Heterozygous Loci
Indications for Screening a Patient for Birt-Hogg-Dube Syndrome
Clinical Features of Birt-Hogg-Dube Syndrome (BHDS)
Clinical Features of the Kartagener Syndrome (Primary Ciliary Dyskinesia Syndrome)
Clinical Features of the 3-M Syndrome
Clinical Features of the Gomez-Lopez-Hernandez Syndrome
Clinical Features of Mowat-Wilson Syndrome (MWS)
Clinical Features of Acrocephalopolysyndactyly Type II (Carpenter Syndrome)
Clinical Features of the Alpha-Thalassemia X-Linked Mental Retardation (ATRX) Syndrome
Clinical Features of the Coffin-Lowry Syndrome (CLS)
Clinical Features of Oculocerebrorenal Syndrome (Lowe Syndrome, OCRS) in Males
Clinical Features of Lujan Syndrome (Lujan-Fryns Syndrome, X-Linked Mental Retardation with Marfanoid Habitus)
Clinical Features of FG Syndrome Type 1 (FGS1, Opitz-Kaveggia Syndrome)
Clinical Features of the Nance-Horan Syndrome (NHS)
Clinical Features of the Ligase IV Syndrome
Differential Diagnosis of the Ligase IV Syndrome
Criteria for the Diagnosis of Pseudoxanthoma Elasticum
Skin Biopsy to Support the Diagnosis of Pseudoxanthoma Elasticum in a Patient Without Characteristic Skin Lesions
Clinical Features of Piebaldism
Indirect Estimation of Mutation Rates
Clinical Features of Jeune Syndrome (Asphyxiating Thoracic Dystrophy, ATD)
Clinical Features of the Bart Pumphrey Syndrome
Diagnostic Criteria of the Scientific Advisory Committee of the U.S. Angelman Syndrome Foundation
Diagnostic Approach of Van Buggenhout and Fryns for Identifying the Genetic Defect Causing Angelman's Syndrome in a Patient
When to Suspect the Presence of Kallmann Syndrome
Kallmann Syndrome Associated with a Mutation in KAL1
Kallmann Syndrome Associated with a Mutation in KAL2
Clinical Features of the PHACE Syndrome
Diagnostic Criteria of the American Academy of Pediatrics for the PHACE Syndrome
MELAS Syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke)
GRACILE Syndrome Associated with a Mutation in BCS1L
Bjornstad Syndrome Associated with a Mutation in BCS1L
Phenotypic Findings Associated with Mitochondrial Complex III Deficiency (Ubiquinol Cytochrome C Reductase Deficiency)
Clinical Features of the Shwachman-Diamond Syndrome
Diagnostic Criteria of Dror and Freedman for Shwachman-Diamond Syndrome
Clinical Features of Peters’-Plus Syndrome
Clinical Features of the MICRO Syndrome
Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) Syndrome
Clinical Features of Marinesco-Sjogren Syndrome
Paternity Index (PI)
Probability of Paternity Using the Paternity Index
Determining the Paternity Index With the Mother Unavailable
Random Male Not Excluded (RMNE)
Avuncular Index (AI)
Criteria of McDermott et al for the Holt-Oram Syndrome Associated with TBX5
Clinical Features of the Duane-Radial Ray Syndrome (DRRS, Okihiro Syndrome)
Clinical Features of the Acro-Renal-Ocular Syndrome (AROS)
Additional Cliinical Findings Seen in Patients with SALL4 Mutations
Schopf-Schulz-Passarge Syndrome (SSPS) Associated with Mutations in WNT10A
Focal Dermal Hypoplasia (Goltz Syndrome) with Mutations in PORCN
Hypohidrotic or Anhidrotic Ectodermal Dysplasia
Ectodermal Dysplasia with Anhidrosis and T-cell Immunodeficiency Related to Mutations in NFKBIA
X-Linked Anhidrotic/Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Associated with a Point Mutation in NEMO
Clinical Features of the Zimmerman-Laband Syndrome
Criteria of Spinner et al for the Clinical Diagnosis of Alagille Syndrome (AGS)
Clinical Features of the Hallervorden-Spatz Syndrome (HSS)
Craniofacial Features of the KPG Syndrome
Skeletal and Developmental Features of the KPG Syndrome
Clinical Features of Bamforth Syndrome
Population Frequency in an X-Linked Recessive Condition
Estimating Gene Frequencies at Equilibrium When Being a Heterozygote is an Advantage Over Being Homozygote for a Trait
Indications for Genetic Testing of a Patient for the Fragile X Syndrome
Number of Cells Required for Cytogenetic Analysis in Patients with the Fragile X Syndrome
Clinical Features of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Fragile X-Associated Primary Ovarian Insufficiency (POI)
Clinical Findings in a Male with Fragile X Syndrome
Fragile XE Syndrome Associated with Mutations in FMR2 (FRAXE)
Checklist of De Vries et al for Identification of Patients with Submicroscopic Subtelomeric Rearrangements
Risk Factors of Chou and Chang for Mental Retardation in a Patient with the Tuberous Sclerosis Complex (TSC)
Logistic Distribution Curve for Age-of-Onset and Penetrance
Risk of Developing an Autosomal Dominant Disease If Unaffected and Cumulative Risk Known
Diagnosis of the Prader-Willi Syndrome
Consensus Diagnostic Criteria of Holm et al for Prader-Willi Syndrome
Indications of Gunay-Aygun et al for DNA Testing of a Patient for Prader-Willi Syndrome
Criteria for the Diagnosis of Klinefelter's Syndrome
Screening Criteria of Kamischke et al for Identifying a Man Who Should Be Tested for Klinefelter's Syndrome
Risk for Cancer Mortality in a Patient with Klinefelter's Syndrome
Segmental Fraction of the Haploid Autosomal Length (HAL)
Y Chromosome Microdeletions Associated with Infertility
Confidence Limits in the Percent Mosaicism Excluded When a Number of Cells Are Analyzed
Criteria for the Diagnosis of Proteus Syndrome
Heterozygosity Index (H or Het) for a Genetic Marker
Polymorphism Information Content (PIC)
Sibship Index (SI)
Cumulative Sibling Index (CSI)
The Phenotypic Impact of a Mendelian Disease Scoring System
Indications for Evaluating a Person for Marfan Syndrome
Criteria for the Diagnosis of Marfan Syndrome
MASS Phenotype
Hand Signs of Marfan Syndrome and Related Connective Tissue Disorders (Thumb Sign, Walker-Murdoch Wrist Sign)
Differential Diagnosis of Pulmonary Disease in a Patient with Marfan's Syndrome
Partial Deletion of 5p and the Cri du Chat Syndrome
Partial Deletion of 4p and the Wolf-Hirschhorn Syndrome
22q13.3 Microdeletion Syndrome (Phelan-McDermid Syndrome)
Deletion 3p Syndrome (Verjaal-De Nef Syndrome)
22q11.2 Microdeletion Syndrome (DiGeorge, Velo-Cardio-Facial, Shprintzen)
Clinical Features of 13q Deletion Syndrome
Clinical Features of 18p Deletion Syndrome
Clinical Features of 18q Deletion Syndrome
Clinical Features of the 4q Deletion Syndrome
Clinical Features of the 8q22.1 Microdeletion Syndrome (Nablus Mask-Like Facial Syndrome)
Clinical Features of the 7q11.23 Microdeletion Syndrome (Williams-Beuren Syndrome, WBS)
CATCH22 Syndrome
The Curacao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia
Genetic Loci Associated with Hereditary Hemorrhagic Telangiectasia (HHT)
Diagnostic Criteria of Rose et al for Stickler Syndrome
Diagnostic Criteria of Nakura et al for Werner Syndrome
Diagnosis of the VATER/VACTERL Association
Criteria for the Classical Ehlers-Danlos Syndrome (EDS I and II)
Criteria for the Hypermobility Type of Ehlers-Danlos Syndrome (EDS III)
Criteria for the Vascular Type of Ehlers-Danlos Syndrome (EDS IV)
Criteria for the Kyphoscoliosis Type of Ehlers-Danlos Syndrome (EDS VI)
Criteria for the Arthrochalasia Type of Ehlers-Danlos Syndrome (EDS VIIA and VIIB)
Criteria for the Dermatosparaxis Type of Ehlers-Danlos Syndrome (EDS VIIC)
Classification of Sillence et al for Osteogenesis Imperfecta
Factors of Englebert et al for Predicting the Ability to Walk in Patients with Osteogenesis Imperfecta
Clinical Diagnosis of an Infant with the Beckwith-Wiedemann Syndrome
Criteria of Weksberg et al for Beckwith-Wiedermann Syndrome
Trisomy 18 Score of Marion et al
Phenotypic Features of Trisomy 13 (Patau Syndrome)
Phenotypic Features of Trisomy 21 (Down's Syndrome)
Diagnostic Index of Preus for Down Syndrome
Anthropometric Craniofacial (Cephalometric) Pattern Profile of Allanson et al for Down Syndrome
Clinical Features of Trisomy 22
Diagnostic Features of the Russell-Silver Syndrome
Phenotypic Features of Patients with Noonan Syndrome
Clinical Features of Turner Syndrome
Reasons Why Chromosomal Studies Are Performed on a Patient with Turner Syndrome
Score of Auerbach et al for Fanconi's Anemia Based on the International Fanconi Anemia Registry (IFAR)
Congenital Abnormality Score of Rosenberg et al for Predicting Bone Marrow Failure in Fanconi Anemia
Diagnostic Criteria for the CHARGE Association
The OMENS (Orbit, Mandible, Ear, Nerve, Soft Tissue) Classification for Hemifacial Microsomia
Algorithm of Elsea and Girirajan for Diagnosis of the Smith-Magenis Syndrome
Clinical Features of the Smith-Magenis Syndrome Associated with a 17p11.2 Deletion
Clinical Features of the Smith-Magenis Syndrome Associated with a RAI1 Mutation
Diagnostic Features of the Treacher-Collins Syndrome
Clinical Criteria for the Diagnosis of Rett Syndrome
Model of Jian et al for the Onset of Seizures in a Patient with Rett Syndrome
Diagnostic Criteria of the Waardenburg Consortium for Waardenburg Syndrome Types 1 and 2
Ocular Measurements (W Index) for Identification of Dystopia Canthorum in Waardenburg Syndrome
Phenotypic Features of Achondroplasia
Phenotypic Features of Sotos Syndrome (Cerebral Gigantism)
Phenotypes of Gennarelli et al in Myotonic Dystrophy
Posterior Probability of Myotonic Dystrophy Phenotype Based on CTG Number
Guidelines of the International Myotonic Dystrophy Consortium for Genetic Testing in Myotonic Dystrophy
Algorithm of Bushby et al for Detecting a Patient with Duchenne's Muscular Dystrophy (DMD)
Clinical Features of Facioscapulohumeral Dystrophy (FSHD)
Clinical Features of Emery-Dreifuss Muscular Dystophy
Clinical Features of the Dystrophinopathies (Duchenne's and Becker's Muscular Dystrophies)
Clinical Features of Oculopharyngeal Muscular Dystrophy
Clinical Features of the Distal Dystrophy of Welander
Clinical Features of the Limb Girdle Muscular Dystrophies (LGMD)
Clinical Findings in a Patient with Alkaptonuria
Conditions Other Than Alkaptonuria Associated with Ochronosis
Clinical Features of Fabry Disease (Deficiency of alpha-Galactosidase A)
Clinical Features of Mucopolysaccharidosis Type I (MPS I, Hurler, Hurler-Scheie, Scheie Syndromes)
Clinical Phenotypes of Gaucher Disease
Radiologic Stages of Bone Lesions in Patients with Gaucher Disease Type 1
Clinical Features of Niemann-Pick Disease Type A Phenotype
Clinical Features of Niemann-Pick Disease Type B Phenotype
Clinical Features of the Classic Niemann-Pick Disease Type C Phenotype
Staging System of Escolar et al for Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
Clinical Stages of Escolar et al for Progression in a Patient with Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
Indications for Enzyme Replacement Therapy with Imiglucerase in a Patient with Type I Gaucher's Disease
Severity Scoring Index of Zimran et al for a Patient with Gaucher's Disease
Spanish MRI (S-MRI) for Evaluating Bone Marrow Involvement in a Patient with Gaucher's Disease
Clinical Features of Juvenile Neuronal Ceroid Lipofuscinosis (Batten's Disease)
Mainz Severity Score Index (MSSI) for a Patient with Fabry Disease
Juvenile, Adolescent and Adult Presentations of Krabbe Disease
Clinical Features of the Hermansky-Pudlak Syndrome
Clinical Features of Tyrosinase-Deficient Oculocutaneous Albinism (OCA1)
Clinical Features of P-Related Oculocutaneous Albinism (OCA2)
Oculocerebral Syndrome with Hypopigmentation (Cross Syndrome, Kramer Syndrome)
Clinical Findings in a Patient with Refsum Disease
Patients Who Should Be Screened for Bloom Syndrome
Clinical Features of Hereditary Fructose Intolerance
Clinical Features of Classical Galactosemia (Deficiency of Galactose-1-Phosphate Uridyltransferase, GALT)
Clinical Features of Xeroderma Pigmentosum
Clinical Features of Cockayne Syndrome
Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome
Clinical Features of Chediak-Higashi Syndrome
Clinical Features of the Bernard-Soulier Syndrome
Clinical Features of the Montreal Platelet Syndrome
The May-Hegglin Anomaly and Fechtner Syndrome
Clinical Features of Glanzmann's Thrombasthenia
Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Syndromic Features
Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Nonsyndromic Features
Thrombocytopenia with Absent Radii (TAR) Syndrome
Congenital Amegakaryocytic Thrombocytopenia (CAMT)
Harris Platelet Syndrome (Asymptomatic Constitutional Macrothrombocytopenia)
Clinical Features of Ataxia-Telangiectasia (A-T)
Criteria of Landy and Donnai for the Diagnosis of Incontinentia Pigmenti in a Patient with a First Degree Female Relative with Inontinentia Pigmenti
Criteria of Landy and Donnai for the Diagnosis of Sporadic Incontinentia Pigmenti
Stages of Cutaneous Lesions in Incontinentia Pigmenti
Clinical Features of the 7q11.23 Microduplication Syndrome (Williams-Beuren Region Duplication Syndrome)
Clinical Features of the MECP2 Duplication Syndrome
Clinical Features of the 22q11.2 Duplication Syndrome
Clinical Features of the Cat-Eye Syndrome (CES)
Clinical Features of Emanuel Syndrome with der(22)
Clinical Features of the Potocki-Lupski Syndrome (17p11.2 Duplication Syndrome)
Drumsticks and Other Nuclear Changes in White Blood Cells Associated with Gender
Barr Body (Sex Chromatin in Somatic Cells)
Clinical Features of the Lesch-Nyhan Disease
Clinical Features of Abetalipoproteinemia
Clinical Features of Familial Lipoprotein Lipase (LPL) Deficiency
Clinical Stages of Hagberg for Infantile Metachromatic Leukodystrophy
Clinical Features of the Aarskog-Scott Syndrome
Clinical Features of Holocarboxylase Synthetase Deficiency
Clinical Features of Biotinidase Deficiency
IPEX Syndrome (Immunodeficiency, Polyendocrinopathy, Enteropathy, X-Linked Syndrome)
Clinical Features of Familial Dysautonomia (Riley-Day Syndrome)
The Dysautonomic Crisis in Familial Dysautonomia
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
Clinical Features of Meckel-Gruber Syndrome
Clinical Features of the McCune-Albright Syndrome (Osteitis Fibrosa Cystica)
Clinical Features of Albright's Hereditary Osteodystrophy (AHO, Pseudohypoparathryoidism Ia, Pseudo-Pseudohypoparathyroidism)
Clinical Features of Craniofacial Fibrous Dysplasia
Prognostic Factors of Park et al Following Resection of Craniofacial Fibrous Dysplasia
Criteria of Maria et al for Joubert Syndrome
Criteria of Saraiva and Baraitser for Joubert Syndrome
Criteria of Parisi et al for Joubert Syndrome
Diagnostic Strategy of Parisi et al for a Patient with Possible Joubert Syndrome
COACH Syndrome (Joubert Syndrome with Congenital Hepatic Fibrosis)
Criteria of Chandler et al for Cohen Syndrome
Criteria of Kolehmainen et al for Cohen Syndrome
Clinical Features of the LEOPARD Syndrome
Criteria of Lurie and Wulfsberg for the Holoprosencephaly-Polydactyly Syndrome
Diagnostic Criteria of Dobyns et al for the Walker-Warburg Syndrome
Classification of Dobyns et al for Lissencephaly Type I Based on Gross Neuroanatomy
Clinical and Laboratory Features of the Miller-Dieker Syndrome (MDS)
Clinical Features of X-Linked Lissencephaly with Abnormal Genitalia (XLAG)
Criteria of Wang and Plon for the Rothmund-Thomson Syndrome
Clinical Features of RAPADILINO
Criteria of Van Maldergem for Baller-Gerold Syndrome (BGS)
Criteria of Angelova-Fischer et al for Kindler Syndrome
Clinical Features of Spencer et al for Barth Syndrome
Clinical Features of Mulibrey Nanism
Diagnostic Features of the Smith-Lemli-Opitz Syndrome
Clinical and Laboratory Features of the Smith-Lemli-Opitz Syndrome
Types of the Smith-Lemli-Opitz Syndrome
Clinical Features of Seckel Syndrome
Clinical Features of the Rubinstein-Taybi Syndrome
Algorithm of Hennekam for the Diagnosis of Rubinstein-Tabyi Syndrome
Clinical Features of Menkes Syndrome
Neurological Score of Baumann et al a Patient with X-Linked Adrenoleukodystrophy
Clinical Features of Costello Syndrome
Clinical Features of the Hutchinson-Gilford Progeria Syndrome
Phenotypic Features of the Brachmann-De Lange Syndrome (BDLS)
Criteria of Ireland et al for Avoiding the Misdiagnosis of Brachmann-De Lange Syndrome
Clinical Features in the Mild Expression of the Brachmann-de Lange Syndrome
Criteria for the Diagnosis of Spinal Muscular Atrophy
Phenotypic Classification of Spinal Muscular Atrophy
Criteria of North et al for Congenital Nemaline Myopathy
Clinical Phenotypes of Congenital Nemaline Myopathy
Phenotypic Features of Loeys-Dietz Syndrome Type I
Phenotypic Features of Loeys-Dietz Syndrome Type II
Craniofacial Severity Index for a Patient with Loeys-Dietz Syndrome
Clinical Features of Loeys-Dietz Syndrome (LDS)
Clinical Features of the Nijmegen Breakage Syndrome
Criteria of Aylsworth for the Diagnosis of Townes-Brocks Syndrome
Clinical Features of Townes-Brocks Syndrome
Clinical Features of the Branchio-Oto-Renal Syndrome
Clinical Features of Pendred Syndrome (Hereditary Goiter and Hearing Loss)
Clinical Features of Oculodentodigital Dysplasia
Criteria of Biesecker for Diagnosis of the Greig Cephalopolysyndactyly Syndrome (GCPS)
Clinical Features of the Pallister-Hall Syndrome
Clinical Features of Milroy's Disease (Hereditary Congenital Lymphedema. Primary Lymphedema)
Clinical Features of Hereditary Lymphedema-Distichiasis
Clinical Features of the Johanson-Blizzard Syndrome
Clinical Features of Crouzon Syndrome
Crouzon Syndrome with Acanthosis Nigricans (CAN)
Severe Achondroplasia with Development Delay and Acanthosis Nigricans (SADDAN)
Clinical Features of Muenke Syndrome (FGFR3-Associated Coronal Craniosynostosis)
Clinical Features of Pfeiffer Syndrome Type 1 (Classic Pfeiffer Syndrome)
Clinical Features of Pfeiffer Syndrome Types 2 and 3
Autosomal Dominant Familial Hypertension with Short Stature and Brachydactyly
Groll-Hirschowitz Syndrome (GHS)
Clinical Findings Associated with the Schinzel-Giedion Syndrome (SGS)
Clinical Features of the 47,XYY Syndrome
Clinical Features of 48,XXXX (Tetra-X)
Clinical Features of Hajdu-Cheney Syndrome (HCS)
Clinical Features of Tetrasomy 12p (Pallister-Killian Syndrome)
Six-Item Checklist of Giangreco et al to Screen a Child for Fragile X Syndrome
Checklist of Limprasert et al for Screening Thai Boys for the Fragile X Syndrome
Clinical Features of Trisomy 12p Syndrome
Diagnostic Criteria of van der Burgt et al for Noonan Syndrome
Mnemonic Screening Tool of Cohn et al for a Patient with Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II)
Bone Crises in Gaucher Disease
Therapeutic Goals for a Child with Gaucher Disease: Hepatomegaly and Splenomegaly
Therapeutic Goals for a Child with Gaucher Disease: Growth and Skeletal Bone
Therapeutic Goals for a Child with Gaucher Disease: Hematologic Parameters
The Pediatric Gaucher Severity Scoring System (PGS3) of Kallish and Kaplan for Type 1 Gaucher Disease
Gray Platelet Syndrome (GPS)
Autosomal Dominant Thrombocytopenia on Human Chromosome 10 (THC2)
Pearson Marrow-Pancreas Syndrome
Establishing Paternity When the Purported Father Has Died
L1 Syndrome: MASA Phenotype
L1 Syndrome: Hydrocephalus due to Stenosis of the Aqueduct of Sylvius (HSAS) Phenotype
L1 Syndrome: X-Linked Complicated Corpus Callosum Agenesis Syndrome (CCCA) Phenotype (CRASH Syndrome)
L1 Syndrome: X-Linked Complicated Hereditary Spastic Paraplegia Type 1
Neuroimaging Findings Associated with the L1 Syndrome
Clinical Features of the Al-Awadi/Raas-Rothschild (AARR) Syndrome
Clinical Features of Nager Acrofacial Dysostosis (NAD)
Vasculopathy Associated with Mutations in ADA2
Clinical Features of Battaglia-Neri Syndrome
Clinical Features of Char Syndrome
Differential Diagnosis of Heart-Hand Syndrome
Clinical Features of Fryns Syndrome
Clinical Features of Dubowitz Syndrome
ROR2-Related Autosomal Recessive Robinow Syndrome
Clinical Findings in a Patient with Untreated Hereditary Tyrosinemia Type I
Clinical Features of Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome
Phenotypic Spectrum in Lesch-Nyhan Disease
Citrin Deficiency: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)
Citrin Deficiency: Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency (FTTDCD)
Citrin Deficiency: Citrullinemia Type II (CTLN2)
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Criteria for the Peters Plus Syndrome (Krause-Kivlin Syndrome)
Clinical Features of the EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate)
Clinical Findings in a Patient with Untreated Hereditary Tyrosinemia Type II (Oculocutaneous Tyrosinemia, Richner-Hanhart Syndrome)
Clinical Features of Uner Tan Syndrome (Quadrupedalism with Other Neurologic Deficits)
Leri's Pleonosteosis (LP)
Weill-Marchesani Syndromes (WMS)
Clinical Features of Geleophysic Dysplasia (GD)
Clinical Features of Acromicric Dysplasia
Stiff Skin Syndrome (SSS)
Clinical Features of Myhre Syndrome (MS)
Clinical Features of the LAPS Syndrome
Clinical Features of Allan-Herndon-Dudley Syndrome
Thyroid Hormone Abnormalities in Allan-Herndon-Dudley Syndrome
Alexander’s Disease: Neonatal Form
Alexander’s Disease: Infantile Form
Alexander’s Disease: Juvenile Form
Alexander’s Disease: Adult Form (Late Onset)
MRI Changes of the Brain Associated with Alexander’s Disease
Clinical Features of the PAGOD Syndrome
Common Clinical Presentations of Cerebrotendinous Xanthomatosis (CTX)
Laboratory Findings in Cerebrotendinous Xanthomatosis (CTX)
Clinical Features of Complete (Nonmosaic) Trisomy 9
Clinical Features of Mosaic Trisomy 9
Predictors of Tellier et al for Poor Survival in a Patient with the CHARGE Syndrome
Diagnostic Criteria of Verloes for the CHARGE Syndrome
Facial Anomalies Associated with the CHARGE Syndrome
Diagnostic Criteria of Blake et al for the CHARGE Syndrome
Clinical Features of Perlman Syndrome (Familial Nephroblastomatosis Syndrome, Overgrowth Syndrome with Wilm’s Tumor)
Simpson-Golabi-Behmel (SGB) Syndrome Type 1
Simpson-Golabi-Behmel (SGB) Syndrome Type 2 (Infantile Lethal Variant)
Clinical Features of Weaver Syndrome
Quebec Platelet Disorder (QPD)
Clinical Features of Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
Clinical Features of Wolman Disease (Infantile Onset Lysosomal Acid Lipase Deficiency, LALD)
Clinical Features of Cholesterol Ester Storage Disease (CESD, Non-Infantile Lysosomal Acid Lipase Deficiency, LALD)
Clinical Features of the Floating Harbor Syndrome (FLHS)
Clinical Features of Feingold Syndrome 1
Clinical Features of Myoclonic Epilepsy of Unverricht-Lundborg (EPM1)
Clinical Features of the Nail-Patella Syndrome (NPS)
Clinical Features of the Lacrimo-Auriculo-Dento-Digitial (LADD) Syndrome
Clinical Features of Alstrom Syndrome
Clinical Model of Sheikhzadeh et al for the Evaluating a Patient with Possible Marfan Syndrome
Criteria for the Diagnosis of Autosomal Dominant Oculopharyngeal Muscular Dystrophy (OPMD, Hereditary Ptosis, Dysphagia and Limb Weakness)
Short Stature Associated with Mutations in CUL7 in the Yakuts
Clinical and Laboratory Features of the SOPH (Short Stature, Optic Atrophy, Pelger-Huet Anomaly) Syndrome
Clinical Features of Beals Syndrome (Congenital Contractural Arachnodactyly, CCA)
Diagnostic Criteria of Somer for the PEHO Syndrome (Progressive Encephalopathy with Oedema, Hypsarrhythmia, and Optic Atrophy)
Criteria for Clinical Features of Autosomal Recessive Primary Microcephaly (MCPH)
Clinical Silver Russell Syndrome (SRS) Score of Bartholdi et al
Criteria of Netchine et al for the Russell-Silver Syndrome
Wolcott-Rallison Syndrome (WRS, Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus)
Genetic Discrimination
Clinical Severity Score of Pronicka et al for a Patient with a Genetic Defect in CLPB (Caseinolytic Peptidase B)
Clinical Features Associated with Mutations in CLPB
MEGDEL Syndrome Associated with Mutations in SERAC1 (3-MGCA Type 4)
Clinical Features of Sengers Syndrome
Clinical Features of Leigh Syndrome
Predictors of Sofou et al for Poor Survival of a Patient with Leigh Syndrome
Autosomal Dominant Robinow Syndrome
Clinical Features of Agnathia-Otocephaly
Clinical Features of STAR Syndrome
Klippel-Feil Syndrome with Dominant Inheritance (KFS1)
Klippel-Feil Syndrome with Recessive Inheritance (KFS2)
Clinical Features of X-Linked Opitz G/BBB Syndrome (XLOS)
Clinical Features of the Marden-Walker Syndrome
Phenotypic Spectrum of PIEZO2 Mutations (Marden-Walker Syndrome, Gordon Syndrome, Distal Arthrogryposis Type 5)
Clinical Features of the Antley-Bixler Syndrome (ABS)
Clinical Features of Chitayat Syndrome
ERF-Related Craniosynostosis
Revised Ghent Criteria for the Diagnosis of Marfan Syndrome
Systemic Score of the Revised Ghent Criteria for Marfan Syndrome
Body Span Ratios in Marfan Syndrome
Abnormal Striae in Marfan Syndrome
Drugs Associated with Aortic Dissection That Should Be Avoided by a Patient with Marfan's Syndrome
Clinical Features of Kousseff Syndrome Associated with 22q11.2 Microdeletion
Autosomal Dominant Opitz-Frias G/BBB Syndrome (ADOS)
Birmingham Screening Score for Silver-Russell Syndrome (SRS, Russell-Silver Syndrome)
Criteria of Lai et al for Silver-Russell Syndrome (SRS)
Clinical Features of the 15q Duplication (dup15q) Syndrome
Clinical Features of OPA3-Related 3-Methylglutaconic Aciduria (3-MGCA Type 3, Costeff Syndrome)
Clinical Features of AUH-Related 3-Methylglutaconic Aciduria (3-MGCA Type 1)
Clinical Features of TMEM70-Related 3-Methylglutaconic Aciduria (3-MGCA Type 4)
Clinical Features of DNAJC19-Related 3-Methylglutaconic Aciduria (DCMA Syndrome, 3-MGCA Type 5)
Clinical Features of Bardet-Biedel Syndrome
Clinical Features of the Coffin-Siris Syndrome (CSS)
Clinical Features of PHAVER Syndrome
Clinical Features of PDAC Syndrome (Matthew-Wood Syndrome, Spear Syndrome, Microphthalmic Syndrome 9)
TBC1D24-Related Disorder: DOOR or DOORS Phenotype
Clinical Features of Sitosterolemia (Phytosterolemia)
Measurement of Sterols in the Blood of a Patient with Sitosterolemia
Clinical Features of the Kabuki Syndrome
Phenotypic Score of Makrythanasis et al for the Kabuki Syndrome
Clinical Features of the Floating Harbor Syndrome (FHS)
Clinical Features of Allgrove Syndrome (AAA Syndrome)
SAMD9L-Related Ataxia-Pancytopenia Syndrome (ATXPC)
SAMD9-Related MIRAGE Syndrome
Ring 14 Syndrome
Ring Chromosome 20 Syndrome
Clinical Features of the WAGR Syndrome with Wilm's Tumor and Aniridia
Familial Monosomy 7 Syndrome
Conditions Associated with Monosomy 7
3q26.33-3q27.2 Microdeletion Syndrome
Emergencies Associated with Hereditary Hemorrhagic Telangiectasia (HHT)
Clinical and Laboratory Features of Tangier Disease (Analphalipoproteinemia)
Clinical and Laboratory Features of Hereditary Lecithin- Cholesterol Acyltransferase (LCAT) Deficiency
Fish Eye Disease and Partial LCAT Deficiency
Clinical Features of the DREAM PL Syndrome
Indications of Yoo for Measuring Plasma Levels of Plant Sterols
Clinical Features of Borjeson-Forssman-Lehmann Syndrome
Variant Forms of Borjeson-Forssman-Lehmann Syndrome in Males
Borjeson-Forssman-Lehmann Syndrome (BFLS) in Females
Clinical Features of the GOMBO Syndrome
Clinical Features of 14q Terminal (14qter) Microdeletion Syndrome
17q21.31 Microdeletion Syndrome
Jacobsen Syndrome and Partial Deletion of 11q (del 11qter)
Clinical Features of tbe Xp21.2 Duplication Syndrome
Clinical Features of the Pyramidal Molar, Glaucoma, Unusual Upper Lip Syndrome (Ackerman Syndrome)
Differential Diagnosis of 3-Methylglutaconic (3MGC) Aciduria (3MGCA)
Synophrys (Unibrow, Monobrow)
Prognostic Factors of Canafoglia et al for a Patient with Unverricht-Lundborg Disease
Clinical Features of the Cerebro-Costo-Mandibular Syndrome
Wolfram Syndrome (DIDMOAD)
Clinical Features of the SOFT Syndrome
Brain Lung Thyroid Syndrome (BLTS)
Monosomy 1p36 (1p36 Deletion Syndrome)
9q34.3 Microdeletion and Kleefstra Syndrome
Microdeletions at 2q33 (SATB2-Associated Syndrome, Glass Syndrome, 2q32-q33 Deletion Syndrome, 2q33.1 Microdeletion Syndrome)
15q24 Microdeletion Syndrome
Clinical Features of 4q21 Microdeletions
Clinical Features of Microdeletions at 1q41q42
Clinical Features of Microdeletions at 16p11.2
Clinical Features of Microdeletions at 1q21.1
Clinical Features of Microdeletions in 3q29
Clinical Features of Microdeletions at 17q12
Clinical Features of Microdeletions at 4q25
Clinical Features of Microdeletions at 19p13
Periodontal Ehlers-Danlos Syndrome (Ehlers-Danlos Type VIII)
8p23.1 Duplication Syndrome
Clinical Features of a Duplication at 16p11.2-p12.2
Ratio of Monolysocardiolipin to Cardiolipin in Barth Syndrome
P450 Oxidoreductase Deficiency (PORD) Malformation Score of Krone et al
Clinical Features of PURA Syndrome
Clinical Features of the Xia Gibbs Syndrome
Score of Marangi et al for Pitt-Hopkins Score
Clinical Features of Primrose Syndrome
Metabolic and Laboratory Findings Associated with Primrose Syndrome
Clinical Features of the Beaulieu-Boycott-Innes Syndrome (BBIS)
Clinical Features of the Axenfeld-Rieger Syndrome (ARS)
Clinical Diagnosis of the Galloway Mowat Syndrome (GMS, GAMOS)
Clinical Features of Majeed Syndrome
Clinical Features of the Megacystis Microcolon Hypoperistalsis Syndrome (MMIHS)
Clinical Features of Netherton Syndrome
Clinical Features of the CHOPS Syndrome
Screening for 22q11.2 and 10p13 Deletion Syndromes Using the Mean Platelet Volume to Platelet Count Ratio
10p13-p14 Deletion Syndrome
Malignancies Associated with Fanconi's Anemia
Malan Syndrome (Sotos Syndrome 2)
Marshall Smith Syndrome
Kearns Sayre Syndrome (KSS)
Mosaic and Complete Tetrasomy 5p
Clinical Features of Weiss-Kruszka Syndrome (ZNF462 Disorder)
Clinical Features of the Facial Femoral Syndrome (FFS, Facio-Femoral Syndrome, Femoral Hypoplasia Unusual Facies Syndrome, FH-UFS)
Clinical Features of the DeSanto-Shinawi Syndrome
Clinical and Laboratory Findings Associated with Fanconi Anemia
MECP2 Phenotypes in Males: Severe Neonatal Encephalopathy
MECP2 Phenotypes in Males: Severe Intellectual Disability or PPM-X Syndrome
Variant Rett Syndrome in Females
Variant Rett Syndrome Associated with Mutations in FOXG1 (FOXG1-Related Syndrome)
Differential Diagnosis of Rett Syndrome
Variant Rett Syndrome Associated with Mutations in CDKL5
Clinical Features of Multiple Sulfatase Deficiency (MSD)
Niemann Pick Suspicion Index of Wijburg et al for Niemann-Pick Type C
Clinical Features of Apert Syndrome (Acrocephalosyndactyly Type I)
Frontotemporal Circumference and Intracranial Volume in Craniosynostosis
Clinical Score of Ebana et al for Birt-Hogg-Dube Syndrome (BHDS)
Osteopoikilosis (OPK)
Clinical Features of MTO1 Deficiency, Including ONCE Syndrome
Kearns-Sayre Syndrome Triad
Differential Diagnosis of the Silvery Hair Syndrome
Features Distinguishing Sitosterolemia from Familial Hypercholesterolemia
Chanarin-Dorfman Syndrome
Clinical Features of Neurocristopathy with Congenital Central Alveolar Hypoventilation (Ondine-Hirschsprung Syndrome, Haddad Syndrome)
Biotin or Thiamine Responsive Basal Ganglia Disease (Thiamine Metabolism Dysfunction 2, Biotin or Thiamine Responsive Encephalopathy Type 2, THMD2)
Syndromes associated with Mutations in SLC25A19 (Thiamine Metabolism Dysfunction Type 4 and Amish Lethal Microcephaly)
Thiamine Metabolism Dysfunction Syndrome 5 with Episodic Encephalopathy
Clinical Features of the HIDEA Syndrome
Clinical Features of Kaufman Oculocerebrofacial Syndrome
Clinical Features of Elsahy-Waters Syndrome (Brachioskeletogenital Syndrome, BSGS)
CDH11-Related Teebi Hypertelorism Syndrome (THS)
Cole-Carpenter Syndrome (CCS)
CLN3 Disease Staging System (CLN3SS) of Masten et al for a Patient with Batten Disease (Juvenile Ceroid Lipofuscinosis)
Clinical Features of Severe Neuronopathic Gaucher Disease (Type 2 NGD)
Mild to Moderate Neuronopathic Gaucher’s Disease (Type 3 NGD)
Gaucheroma
Pulmonary Involvement in Gaucher's Disease
Lymphadenopathy in Gaucher's Disease (Gaucher-Related Lymphatic Involvement)
3q29 Duplication/Microduplication Syndrome
Saethre-Chotzen Syndrome (SCS, Acrocephalosyndactyly Type III)
Differential Diagnosis of Sensorineural Hearing Loss with Retinitis Pigmentosa
Binder Phenotype (Maxillo-Nasal Dysplasia)
Phenotypic Features of Mutations in SCAPER
Wildervanck Syndrome (Cervico-Oculo-Acousticus Syndrome, COAS)
Diagnostic Criteria of Tsuboi et al for Perry Disease
Clinical Features of the Schilbach Rott Syndrome (SRS)
Clinical Features of Keutel Syndrome
Stickler Syndrome Type 1 (STL1)
Stickler Syndrome Type 2 (STL2)
Stickler Syndrome Type 3 (STL3)
Stickler Syndrome Type 4 (STL4)
Stickler Syndrome Type 5 (STL5)
Features Distinguishing Turner Syndrome from Noonan Syndrome
Karyotype in Turner Syndrome
Increased Risk of Autoimmune Disease in a Patient with Turner Syndrome
Consequences of Growth Hormone Therapy in a Patient with Turner Syndrome
Diagnosis of Cystinosis
Nephropathic Cystinosis
Intermediate Cystinosis
Extrarenal Manifestations of Cystinosis
Clinical Features of Severe Neonatal or Infantile Zellweger Spectrum Disorder
Clinical Features of the Intermediate Phenotype (Childhood Onset) of Zellweger Spectrum Disorder (ZSD)
Clinical Features of the Mild Phenotype (Adolescent or Adult Onset) of Zellweger Spectrum Disorder (ZSD)
Criteria of Poretti et al for Oral-Facial-Digital (OFD) Syndrome Type VI
Criteria of Gupta et al for Pulmonary Involvement in Birt-Hogg-Dube Syndrome (BHDS)
Criteria of Menko et al for the Diagnosis of Birt-Hogg-Dube Syndrome (BHDS)
Features Differentiating Birt-Hogg-Dube Syndrome (BHDS) Pulmonary Involvement from Lymphangioleiomyomatosis (LAM)
Clinical Features of Christianson Syndrome
Citrullinemia Type I (CTLN1)
Clinical Features of TANGO2 Deficiency
Differential Diagnosis of Familial Spontaneous Pneumothorax
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS, Autosomal Recessive Spastic Ataxia Type 6)
Clinical Features of the Bohring-Opitz Syndrome
Clinical Features of Danon Disease
Clinical Features of the Nicolaides-Baraitser Syndrome (NCBRS)
Clinical Features of the Au-Kline Syndrome (AKS)
Clinical Features of the Burn-McKeown Syndrome (BMKS)
Clinical Features of ST3GAL3 Deficiency
Clinical Features of Cantu Syndrome
Clinical Features of Baraitser-Winder Cerebrofrontofacial (BWCFF) Syndrome
Clinical and Laboratory Features of McLeod Neuroacanthocytosis Syndrome
Prognostic Score of Wahbi et al for Myotonic Dystrophy Type 1 (DM1)
Paris Trousseau Syndrome
Urorectal Septum Malformation Sequence (URSMS)
Clinical Features of Ivemark Syndrome
Clinical Features of Ivemark II Syndrome
Clinical Features of SHORT Syndrome
APDS2 Syndrome Associated with PIK3R1 Mutations
Clinical Features of Mutations in TTC5
Sudden Cardiac Death in a Patient with Mutations in EXOSC5
Neonatal Marfan Syndrome (nMFS)
PIK3A-Related Overgrowth Syndromes (PROS): CLOVES Syndrome
Ochronosis Arthroplasty
CEDNIK Syndrome
Acro-Dermo-Ungual-Lacrimal-Tooth (ADULT) Syndrome
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome 3 (EEC3)
Ankyloblepharon, Ectodermal Defects, and Cleft Lip/Palate (AEC) Syndrome (Rapp-Hodgkin Syndrome)
Limb-Mammary Syndrome
Split Hand/Foot Malformation Type (SHFM4)
Situs Inversus Totalis
PIK3A-Related Overgrowth Syndromes (PROS): Megaloencephaly-Capillary Malformation (MCAP) Syndrome
PIK3A-Related Overgrowth Syndromes (PROS): Fibroadipose Hyperplasia or Overgrowth (FH/FAO)
PIK3A-Related Overgrowth Syndromes (PROS): Miscellaneous Phenotypes
PIK3A-Related Overgrowth Syndromes (PROS): Red Flags
Adermatoglyphia
Cardiofacioneurodevelopmental Syndrome (CFNDS)
Clinical Features of White-Sutton Syndrome
Conradi-Hunermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata Type II, CHHS, CDPX2)
Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)
Clinical Features of Ellis-van Creveld Syndrome (EVC, Chondroectodermal Dysplasia)
Clinical and Laboratory Features of Hartnup Syndrome
Diagnostic Urine Amino Acid Ratio of Haijes et al for a Patient with Hartnup Disorder
Hypermanganesemia with Dystonia Type 1
Hypermanganesemia with Dystonia Type 2 (HMNDYT2, SLC39A14 Deficiency)
Early Diagnostic Score of Ivanovic et al for Myotonic Dystrophy Type 2 (DM2-EDS)
Score of Sharawat et al for Identifying a Pediatric Patient with Duchenne or Becker Muscular Dystrophy
Clinical Features of Myotonic Dystrophy Type 2
ACTG2 Visceral Myopathy (Familial Visceral Myopathy)
Clinical Genetics Assessment Triangle (CGAT) of Ferri-Rufete et al
Types of Axenfeld-Rieger Syndrome (ARS)
Clinical Features of TPK1 Mutations Affecting Thiamine Pyrophosphokinase
Clinical Features of Skraban Deardorff Syndrome (WDR26)
Clinical Features of Early Onset Molybdenum Cofactor Deficiency (Severe MoCD)
Clinical Features of Late Onset Molybdenum Cofactor Deficiency (Mild MoCD)
Clinical Features of Isolated Sulfite Oxidase Deficiency (ISOD)
When to Suspect the Cardiofaciocutaneous (CFC) Syndrome
Phenotypic Features of ARF1-Related Disorders
Clinical Features of the FOXP1 Syndrome
Clinical Features of CLDN10-Related HELIX Syndrome
Clinical Features of Mutations in RNF216 Including Gordon Holmes Syndrome
Clinical Features of the 16p13.11 Microduplication Syndrome
Clinical Features of Bainbridge-Ropers Syndrome (BRS)

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