Coach syndrome 3 - CISMeF

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CISMeF

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Coach syndrome 3OMIM Phenotype

Preferred Label : Coach syndrome 3;

Symbol : COACH3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619113;

Details

Origin ID

619113;

UMLS CUI

C5436841;

Genes related to phenotype
- Rpgrip1-like [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nephronophthisis [HPO term]
- Oculomotor apraxia [HPO term]
- Portal fibrosis [HPO term]
- Ptosis [HPO term]
- Renal insufficiency [HPO term]
- Renal interstitial fibrosis [HPO term]
- Renal interstitial inflammation [HPO term]
- Renal tubular atrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Joubert syndrome with hepatic defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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04/05/2025

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