Cortical dysplasia, complex, with other brain malformations 15

Preferred Label : Cortical dysplasia, complex, with other brain malformations 15;

Symbol : CDCBM15;

CISMeF acronym : PAMDDFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PAMDDFS; Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubulin-gamma complex-associated protein 2 gene (TUBGCP2, 617817.0001);

Prefixed ID : #618737;

Détails

Origin ID

618737;

UMLS CUI

C5231486;

Genes related to phenotype
- Tubulin-gamma complex-associated protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Bulbous nose [HPO term]
- Cerebral visual impairment [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Infantile onset [HPO term]
- Interictal epileptiform activity [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Optic atrophy [HPO term]
- Pachygyria [HPO term]
- Progressive microcephaly [HPO term]
- Protruding ear [HPO term]
- Sloping forehead [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Subcortical band heterotopia [HPO term]
- Subependymal cysts [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Widely-spaced incisors [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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