Lissencephaly 8

Preferred Label : Lissencephaly 8;

Symbol : LIS8;

CISMeF acronym : LIS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane and tetratricopeptide repeat domains-containing protein 3 gene (TMTC3, 617218.0001);

Laboratory abnormalities : Increased serum creatine kinase (rare);

Prefixed ID : #617255;

Details

Origin ID

617255;

UMLS CUI

C4310646;

Genes related to phenotype
- Transmembrane and tetratricopeptide repeat domains-containing protein 3 [OMIM gene]
HPO term(s)
- Abnormal myelination [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Delayed ability to walk [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Occipital encephalocele [HPO term]
- Optic atrophy [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Skeletal muscle atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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