Intellectual developmental disorder, X-linked, syndromic, hedera type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, hedera type;

Symbol : MRXSH;

CISMeF acronym : MRXE; MRXSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXE; Mental retardation, X-linked, with epilepsy; Mental retardation, X-linked, syndromic, hedera type;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, accessory protein-2 gene (ATP6AP2, 300556.0001);

Prefixed ID : #300423;

Details

Origin ID

300423;

UMLS CUI

C1845543;

Automatic exact mappings (from CISMeF team)
- ATP6AP2 wt Allele [NCIt concept]
- X-linked intellectual disability, Hedera type [ORDO Disease]
- mental retardation, X-Linked, with epilepsy [MeSH concept]
- mental retardation, X-Linked, with epilepsy [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Hedera type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Hedera type [DO Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, accessory protein 2 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Agraphesthesia [HPO term]
- Apraxia [HPO term]
- Astereognosia [HPO term]
- Babinski sign [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Falls [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hypomimic face [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Impaired tandem gait [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Narrow forehead [HPO term]
- Neonatal onset [HPO term]
- Parkinsonism [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Slurred speech [HPO term]
- Spasticity [HPO term]
- Thin corpus callosum [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Hedera type [ORDO Disease]
- X-linked intellectual disability-epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability Hedera type (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, with epilepsy [MeSH Supplementary Concept]
- mental retardation, X-Linked, with epilepsy [MeSH concept]

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