Category:Genetic disorder stubs
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Pages in category "Genetic disorder stubs"
The following 200 pages are in this category, out of approximately 253 total. This list may not reflect recent changes.
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- Absence deformity of leg-cataract syndrome
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Acanthosis nigricans-muscle cramps-acral enlargement syndrome
- Acorea, microphthalmia and cataract syndrome
- Acrofrontofacionasal dysostosis
- Acytosiosis
- Aglossia
- Al Gazali Sabrinathan Nair syndrome
- Al-Gazali-Donnai-Mueller syndrome
- Al-Raqad syndrome
- Aldred syndrome
- Alopecia contractures dwarfism intellectual disability syndrome
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- Amazia
- Aniridia renal agenesis psychomotor retardation
- Ankylosing vertebral hyperostosis with tylosis
- Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
- Aphalangy-syndactyly-microcephaly syndrome
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Aplasia cutis-myopia syndrome
- Asymmetric crying facies
- Ataxia-pancytopenia syndrome
- Athelia (disease)
- Ayazi syndrome
B
- Bamforth–Lazarus syndrome
- Banki syndrome
- Benjamin syndrome
- Berk–Tabatznik syndrome
- Biemond syndrome
- Bifid penis
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blepharoptosis-myopia-ectopia lentis syndrome
- Bohring–Opitz syndrome
- Boudhina-Yedes-Khiari syndrome
- Bowen–Conradi syndrome
- Brachial amelia, cleft lip, and holoprosencephaly
- Brachydactyly-long thumb syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Burnside–Butler syndrome
- Buttien-Fryns syndrome
C
- CACNA1C-related disorders
- Calciumopathy
- Camptodactyly-taurinuria syndrome
- Camptodactyly, tall stature, and hearing loss syndrome
- Cataract-ataxia-deafness syndrome
- CHAI disease
- CHAMP1-associated intellectual disability syndrome
- Chromosome 2q deletion
- Chromosome 15q partial deletion
- Collins–Pope syndrome
- Coloboma of macula-brachydactyly type B syndrome
- Combarros–Calleja–Leno syndrome
- Compton-North congenital myopathy
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Congenital disorder of glycosylation type IIc
- Congenital fibrosis of the extraocular muscles
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Cousin syndrome
- Cousin–Walbraum–Cegarra syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniorhiny
- Craniosynostosis with anomalies of the cranial base and digits
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Cyprus facial neuromusculoskeletal syndrome
- Czeizel syndrome
D
- Daentl Townsend Siegel syndrome
- DAVID syndrome
- DDX3X syndrome
- Deafness-vitiligo-achalasia syndrome
- Dermatoosteolysis, Kirghizian type
- Dihydrofolate reductase deficiency
- Diploid-triploid mosaicism
- Distal spinal muscular atrophy type 2
- Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
- Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
- Dystrophinopathy
E
F
- FACES syndrome
- Faciocardiorenal syndrome
- Familial benign copper deficiency
- Familial cirrhosis
- Familial dwarfism and painful muscle spasms
- Familial male-limited precocious puberty
- Familial nasal acilia
- Familial renal amyloidosis
- Familial synovial chondromatosis with dwarfism
- Fechtner syndrome
- Feigenbaum-Bergeron-Richardson syndrome
- Fibular aplasia-ectrodactyly syndrome
- First arch syndrome
- Fleck corneal dystrophy
- Fleischer's syndrome
G
H
- Hair defect-photosensitivity-intellectual disability syndrome
- Halal syndrome
- Hall-Riggs syndrome
- Hand and foot deformity with flat facies
- Hapnes Boman Skeie syndrome
- Hardcastle syndrome
- Hawkinsinuria
- HEC syndrome
- Hemifacial hypertrophy
- Hereditary benign intraepithelial dyskeratosis
- Hereditary hyperbilirubinemia
- Hirschsprung's disease-type D brachydactyly syndrome
- Histidinuria renal tubular defect syndrome
- Ho–Kaufman–Mcalister syndrome
- Hurler–Scheie syndrome
- Hyperinsulinism-hyperammonemia syndrome
- Hypoalphalipoproteinemia
- Hypoplasminogenemia
I
K
L
M
- MacDermot–Winter syndrome
- Majewski's polydactyly syndrome
- May–White syndrome
- McKusick–Kaufman syndrome
- Mdx mouse
- Megalocornea-intellectual disability syndrome
- Meige disease
- Metaphyseal chondrodysplasia Schmid type
- Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Michels syndrome
- Mickleson syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly deafness syndrome
- Microcheilia
- Microcornea, glaucoma, and absent frontal sinuses
- Microhydranencephaly
- Microorchidism
- Microspherophakia
- Mirror polydactyly-vertebral segmentation-limb defects syndrome
- Monogenic obesity
- Monosomy 14
- Multiple abnormalities
- Multisystemic smooth muscle dysfunction syndrome
- Mungan syndrome
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Musculoskeletal abnormality
- Myelokathexis
N
O
P
- Pacman dysplasia
- Palmoplantar ectodermal dysplasia
- Paris-Trousseau syndrome
- Partial monosomy 13q
- Pashayan syndrome
- Patterson syndrome
- Pilotto syndrome
- Pipecolic acidemia
- Polydactyly-myopia syndrome
- Polymerase proofreading-associated polyposis
- Polysplenia
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Pure hair-nail type ectodermal dysplasia
- Pyknoachondrogenesis