O'donnell-luria-rodan syndrome

Preferred Label : O'donnell-luria-rodan syndrome;

Symbol : ODLURO;

CISMeF acronym : ODLURO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific methyltransferase 2E gene (KMT2E, 608444.0001);

Prefixed ID : #618512;

Details

Origin ID

618512;

UMLS CUI

C5193138;

Genes related to phenotype
- Lysine-specific methyltransferase 2e [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal corpus callosum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Periorbital fullness [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Skin-picking [HPO term]
- Tapered finger [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- O'Donnell-Luria-Rodan syndrome [MeSH Supplementary Concept]

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