Category:Genetic disorder stubs
This category is maintained by WikiProject Stub sorting.
Please propose new stub templates and categories here before creation.
Please propose new stub templates and categories here before creation.
This category is for stub articles relating to genetic disorder. You can help by expanding them.
To add an article to this category, use
To add an article to this category, use
{{genetic-disorder-stub}} instead of {{stub}}.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.
(previous page) (next page)A
- 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
- DUP17Q12
- 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
- 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