Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development

Preferred Label : Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development;

Symbol : HGPPS2;

CISMeF acronym : HGPPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental split-brain syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the deleted in colorectal carcinoma gene (DCC, 120470.0010);

Prefixed ID : #617542;

Details

Origin ID

617542;

UMLS CUI

C4479640;

Genes related to phenotype
- Dcc netrin 1 receptor [OMIM gene]
HPO term(s)
- Abnormality of the anterior commissure [HPO term]
- Absent hippocampal commissure [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Fetal onset [HPO term]
- Fusion of the left and right thalami [HPO term]
- Global developmental delay [HPO term]
- Hemiparesis [HPO term]
- Horizontal supranuclear gaze palsy [HPO term]
- Hydrocephalus [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Interhemispheric cyst [HPO term]
- Midline brainstem cleft [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Horizontal gaze palsy with progressive scoliosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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