Intellectual developmental disorder, X-linked, syndromic 34

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 34;

Symbol : MRXS34;

CISMeF acronym : MRXSML; MRXS34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRXSML; Mental retardation, X-linked, syndromic, mircsof-langouet type; Mental retardation, X-linked, syndromic 34;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the non-POU domain-containing octamer-binding protein gene (NONO, 300084.0001);

Prefixed ID : #300967;

Details

Origin ID

300967;

UMLS CUI

C4225417;

Automatic exact mappings (from CISMeF team)
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome [ORDO Disease]
- syndromic X-linked intellectual disability 34 [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability 34 [DO Concept]
Genes related to phenotype
- Non-pou domain-containing octamer-binding protein [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Atrial septal defect [HPO term]
- Autism [HPO term]
- Cardiomegaly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Delayed ability to walk [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Deviated nasal septum [HPO term]
- Drooling [HPO term]
- Dysplastic corpus callosum [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hallux valgus [HPO term]
- High, narrow palate [HPO term]
- Hypotonia [HPO term]
- Impulsivity [HPO term]
- Increased head circumference [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Kyphosis [HPO term]
- Left ventricular noncompaction [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Mild global developmental delay [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal bridge [HPO term]
- Nasal speech [HPO term]
- Neonatal hypotonia [HPO term]
- Open mouth [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Perseveration [HPO term]
- Persistent head lag [HPO term]
- Pes planus [HPO term]
- Pineal cyst [HPO term]
- Prominent nose [HPO term]
- Relative macrocephaly [HPO term]
- Right ventricular hypertrophy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Slender build [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
- Submucous cleft soft palate [HPO term]
- Synostosis of the proximal phalanx of the thumb with the 1st metacarpal [HPO term]
- Thick corpus callosum [HPO term]
- Thickened calvaria [HPO term]
- Tremor [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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