Endove syndrome, limb-brain type

Preferred Label : Endove syndrome, limb-brain type;

Symbol : ENDOVESLB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelia of lower extremities with hand, foot, and brain anomalies; MLEHFB;

Prefixed ID : #619218;

Details

Origin ID

619218;

UMLS CUI

C5543142;

Genes related to phenotype
- Engrailed 1 [OMIM gene]
HPO term(s)
- Aplasia of the 3rd finger [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar agenesis [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Focal tonic seizure [HPO term]
- Gastrojejunal tube feeding in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Joint laxity [HPO term]
- Microcephaly [HPO term]
- Neurogenic bladder [HPO term]
- Osteomyelitis [HPO term]
- Persistent head lag [HPO term]
- Recurrent urinary tract infections [HPO term]
- Talar aplasia [HPO term]
- Toe syndactyly [HPO term]
- Triangular tibia [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- EN1-related dorsoventral syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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