Polymicrogyria with or without vascular-type ehlers-danlos syndrome

Preferred Label : Polymicrogyria with or without vascular-type ehlers-danlos syndrome;

Symbol : PMGEDSV;

CISMeF acronym : PMGEDSV;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen, type III, alpha-1 gene (COL3A1, 120180.0034);

Prefixed ID : #618343;

Details

Origin ID

618343;

UMLS CUI

C5193040;

Genes related to phenotype
- Collagen, type III, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal corpus callosum morphology [HPO term]
- Abnormal foot morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of eye movement [HPO term]
- Aortic dissection [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Camptodactyly [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar hypoplasia [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Long face [HPO term]
- Long fingers [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Narrow nasal ridge [HPO term]
- Polymicrogyria [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Slender finger [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Thin vermilion border [HPO term]
- Varicose veins [HPO term]
- Vascular dilatation [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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