Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia

Preferred Label : Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia;

Symbol : MICPCH;

CISMeF acronym : MICPCH; MRXSNA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Micpch syndrome; MRXSNA; Mental retardation, X-linked, syndromic, najm type; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Intellectual developmental disorder, X-linked, syndromic, najm type;

Description : Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the calcium/calmodulin-dependent serine protein kinase gene (CASK, 300172.0001);

Prefixed ID : #300749;

Details

Origin ID

300749;

UMLS CUI

C2677903;

Currated CISMeF NLP mapping
- Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) [SNOMED CT concept]
- Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia [ICD-11 More detail]
- X-linked intellectual disability, Najm type [ORDO Disease]
- mental retardation and microcephaly with pontine and cerebellar hypoplasia [MeSH concept]
- mental retardation and microcephaly with pontine and cerebellar hypoplasia [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability Najm type [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability Najm type [DO Concept]
Genes related to phenotype
- Calcium/calmodulin-dependent serine protein kinase [OMIM gene]
HPO term(s)
- Abnormally large globe [HPO term]
- Absent speech [HPO term]
- Axial hypotonia [HPO term]
- Broad nasal tip [HPO term]
- Cerebellar hypoplasia [HPO term]
- Decreased body weight [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Dilated fourth ventricle [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, moderate [HPO term]
- Intermittent hyperventilation [HPO term]
- Long philtrum [HPO term]
- Macrogyria [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Optic nerve hypoplasia [HPO term]
- Oval face [HPO term]
- Pachygyria [HPO term]
- Plagiocephaly [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Retinal coloboma [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Najm type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability, Najm type [ORDO Disease]
- mental retardation and microcephaly with pontine and cerebellar hypoplasia [MeSH Supplementary Concept]
- mental retardation and microcephaly with pontine and cerebellar hypoplasia [MeSH concept]

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