Intellectual developmental disorder with poor growth and with or without seizures or ataxia

Preferred Label : Intellectual developmental disorder with poor growth and with or without seizures or ataxia;

Symbol : IDPOGSA;

CISMeF acronym : IDPOGSA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily A, member 2 gene (ABCA2, 600047.0001);

Prefixed ID : #618808;

Details

Origin ID

618808;

UMLS CUI

C5394135;

Genes related to phenotype
- Atp-binding cassette, subfamily a, member 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Developmental cataract [HPO term]
- Dysarthria [HPO term]
- Fair hair [HPO term]
- Gait ataxia [HPO term]
- Incoordination [HPO term]
- Increased LDL cholesterol concentration [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Microcephaly [HPO term]
- Mild global developmental delay [HPO term]
- Muscle weakness [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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