Intellectual developmental disorder, autosomal recessive 71

Preferred Label : Intellectual developmental disorder, autosomal recessive 71;

Symbol : MRT71;

CISMeF acronym : MRT71;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 71;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AlkB, E. Coli, homolog of, 8 gene (ALKBH8, 613306.0001);

Prefixed ID : #618504;

Details

Origin ID

618504;

UMLS CUI

C5193133;

Genes related to phenotype
- Alkb homolog 8, trna methyltransferase [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Increased overbite [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Micropenis [HPO term]
- Seizure [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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