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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617507
http://purl.bioontology.org/ontology/OMIM/617507
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|---|---|
| Preferred Name | PEHO-LIKE SYNDROME |
| Synonyms |
PEHOL
PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PEHOL
PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME
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|---|---|
| prefLabel | PEHO-LIKE SYNDROME
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| Gene Symbol |
CCDC88A
HKRP1
GIV
PEHOL
APE
KIAA1212
GIRDIN
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| Scope Statement | Three patients from 1 consanguineous family have been reported (last curated July 2016) [MISCELLANEOUS]
Onset in infancy or at birth [MISCELLANEOUS]
Caused by mutation in the coiled-coil domain-containing protein 88A gene (CCDC88A, 609736.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 2p16.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 617507
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1850056
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |