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X-linked intellectual deficit, Najm type
1 OMIM reference -
1 associated gene
18 connected diseases
25 signs/symptoms
Disease Type of connection
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Young adult-onset Parkinsonism
Congenital nephrotic syndrome, Finnish type
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Cortical dysplasia - focal epilepsy syndrome
Pitt-Hopkins-like syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Usher syndrome type 2
Acute infantile liver failure-multisystemic involvement syndrome
Papillary or follicular thyroid carcinoma
Autosomal recessive nonsyndromic intellectual deficit
Benign familial epilepsy of childhood with rolandic spikes
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Landau-Kleffner syndrome
Rolandic epilepsy - speech dyspraxia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonym(s):
- MICPCH
- X-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CASK O14936300172
Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Broad forehead
- Broad nose / nasal bridge
- Cataract / lens opacification
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hypertelorism
- Long philtrum
- Long / large ear
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mild visual loss / impaired visual acuity
- Myopia
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Strabismus / squint

Occasional
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinoschisis / retinal / chorioretinal coloboma
- Scoliosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia