Shukla-vernon syndrome

Preferred Label : Shukla-vernon syndrome;

Symbol : SHUVER;

CISMeF acronym : SHUVER;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the BCL6 corepressor-like 1 gene (BCORL1, 300688.0001);

Prefixed ID : #301029;

Details

Origin ID

301029;

UMLS CUI

C5193146;

Currated CISMeF NLP mapping
- Shukla-Vernon syndrome [DO Concept]
DO Cross reference
- Shukla-Vernon syndrome [DO Concept]
Genes related to phenotype
- Bcl6 corepressor-like 1 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Broad-based gait [HPO term]
- Cerebellar atrophy [HPO term]
- Coarse facial features [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Drooling [HPO term]
- Exotropia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Long face [HPO term]
- Long fingers [HPO term]
- Seizure [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Variable expressivity [HPO term]
- Wide nasal base [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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