Genetic disorder stubs
- 5,10-methenyltetrahydrofolate synthetase deficiency
- Abderhalden–Kaufmann–Lignac syndrome
- Ackerman syndrome
- Acrocephalosyndactyly
- Acrofrontofacionasal dysostosis
- Acro–dermato–ungual–lacrimal–tooth syndrome
- Al-Gazali-Donnai-Mueller syndrome
- Al-Raqad syndrome
- Alcohol intolerance
- Aldred syndrome
- Alopecia contractures dwarfism intellectual disability syndrome
- Alwadei syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Asymmetric crying facies
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Banki syndrome
- Benign hereditary chorea
- Bifid penis
- Blepharoptosis-myopia-ectopia lentis syndrome
- Bohring–Opitz syndrome
- Boudhina-Yedes-Khiari syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Buttien-Fryns syndrome
- Camptodactyly-taurinuria syndrome
- Cholemia
- Chromosome 2q deletion
- Collins–Pope syndrome
- Coloboma of macula-brachydactyly type B syndrome
- Compton-North congenital myopathy
- Congenital disorder of glycosylation type IIc
- Cousin syndrome
- Cystathioninuria
- DAVID syndrome
- DDX3X syndrome
- Dihydrofolate reductase deficiency
- Distal spinal muscular atrophy type 2
- Du Pan syndrome
- Erythrokeratodermia variabilis
- Familial isolated vitamin E deficiency
- Fibular aplasia-ectrodactyly syndrome
- Gonadotropin insensitivity
- GRACILE syndrome
- Hall-Riggs syndrome
- Hawkinsinuria
- Hoyeraal–Hreidarsson syndrome
- Hyperinsulinism-hyperammonemia syndrome
- Hyperlysinemia
- Hypervalinemia
- Hypoalphalipoproteinemia
- Hypoplasminogenemia
- Immunodeficiency–centromeric instability–facial anomalies syndrome
- Inherited disorders of trafficking
- Intellectual disability-spasticity-ectrodactyly syndrome
- Jokela type spinal muscular atrophy
- KCNQ2 developmental and epileptic encephalopathy
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- LPS-responsive beige-like anchor protein deficiency
- Lucey–Driscoll syndrome
- Macdermot-Winter syndrome
- May–White syndrome
- McKusick–Kaufman syndrome
- Metachondromatosis
- Microcephalic primordial dwarfism, Montreal type
- Multisystemic smooth muscle dysfunction syndrome
- Nathalie syndrome
- Orofaciodigital syndrome
- OSLAM syndrome
- Pashayan syndrome
- Pipecolic acidemia
- Polydactyly-myopia syndrome
- Pure hair-nail type ectodermal dysplasia
- Ramos-Arroyo syndrome
- Saal Greenstein syndrome
- Saccharopinuria
- Schimke syndrome
- Seaver Cassidy syndrome
- Smith Martin Dodd syndrome
- Spastic ataxia-corneal dystrophy syndrome
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2A
- Spinal muscular atrophy with lower extremity predominance 2B
- Spondylocamptodactyly
- Template:Genetic-disorder-stub
- Thai symphalangism syndrome
- Thoracic dysplasia-hydrocephalus syndrome
- Tucker syndrome
- Van Buchem disease
- Van De Berghe Dequeker syndrome
- Warkany syndrome 1
- Wiedemann–Rautenstrauch syndrome
- Zechi-Ceide syndrome
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