Poretti-boltshauser syndrome

Preferred Label : Poretti-boltshauser syndrome;

Symbol : PTBHS;

CISMeF acronym : PTBHS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laminin, alpha-1 gene (LAMA1, 150320.0001);

Prefixed ID : #615960;

Details

Origin ID

615960;

UMLS CUI

C4014821;

Currated CISMeF NLP mapping
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome [ORDO Disease]
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Laminin, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Amblyopia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Delayed speech and language development [HPO term]
- Dilated fourth ventricle [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- Hypotonia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Retinal atrophy [HPO term]
- Retinal dystrophy [HPO term]
- Retinal thinning [HPO term]
- Strabismus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome [ORDO Disease]
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) [SNOMED CT concept]

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