Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum

Preferred Label : Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum;

Symbol : MCIDDS;

CISMeF acronym : MCIDDS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium channel, voltage-gated, Shaker-related subfamily, member-4 gene (KCNA4, 176266.0001);

Prefixed ID : #618284;

Details

Origin ID

618284;

UMLS CUI

C4748984;

Genes related to phenotype
- Potassium channel, voltage-gated, shaker-related subfamily, member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cogwheel rigidity [HPO term]
- Decreased body weight [HPO term]
- Delayed speech and language development [HPO term]
- Developmental cataract [HPO term]
- Dysarthria [HPO term]
- Hypertonia [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Short stature [HPO term]
- Spastic gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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