Peho-like syndrome

Preferred Label : Peho-like syndrome;

Symbol : PEHOL;

CISMeF acronym : PEHOL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil domain-containing protein 88A gene (CCDC88A, 609736.0001);

Prefixed ID : #617507;

Details

Origin ID

617507;

UMLS CUI

C1850056;

Automatic exact mappings (from CISMeF team)
- PEHO syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- PEHO-Like syndrome [MeSH concept]
- PEHO-like syndrome [ORDO Disease]
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 88a [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile encephalopathy [HPO term]
- Intellectual disability, profound [HPO term]
- Lissencephaly [HPO term]
- Myoclonus [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Progressive microcephaly [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Short nose [HPO term]
- Sloping forehead [HPO term]
- Status epilepticus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- PEHO-like syndrome [ORDO Disease]
See also inter- (CISMeF)
- PEHO syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PEHO-Like syndrome [MeSH concept]
- PEHO-like syndrome [ORDO Disease]
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients