Brain abnormalities, neurodegeneration, and dysosteosclerosis

Preferred Label : Brain abnormalities, neurodegeneration, and dysosteosclerosis;

Symbol : BANDDOS;

CISMeF acronym : BANDDOS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the colony-stimulating factor 1 receptor gene (CSF1R, 164770.0010);

Laboratory abnormalities : Hypocalcemia (in some patients);

Prefixed ID : #618476;

Détails

Origin ID

618476;

UMLS CUI

C5193117;

Genes related to phenotype
- Colony-stimulating factor 1 receptor [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysarthria [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hyperreflexia [HPO term]
- Hypocalcemia [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Mental deterioration [HPO term]
- Metaphyseal widening [HPO term]
- Mutism [HPO term]
- Neurodegeneration [HPO term]
- Optic atrophy [HPO term]
- Osteopetrosis [HPO term]
- Periventricular heterotopia [HPO term]
- Platyspondyly [HPO term]
- Poor speech [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
See also inter- (CISMeF)
- CSF1R wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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