Intellectual developmental disorder, autosomal recessive 65

Preferred Label : Intellectual developmental disorder, autosomal recessive 65;

Symbol : MRT65;

CISMeF acronym : MRT65;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 65;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysine-specific demethylase 5B gene (KDM5B, 605393.0001);

Prefixed ID : #618109;

Détails

Origin ID

618109;

UMLS CUI

C4748219;

Genes related to phenotype
- Lysine demethylase 5b [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the pinna [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, moderate [HPO term]
- Myopia [HPO term]
- Prominent metopic ridge [HPO term]
- Prominent nasal bridge [HPO term]
- Ptosis [HPO term]
- Square face [HPO term]
- Strabismus [HPO term]
- Thin vermilion border [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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