Neurodevelopmental disorder with impaired language and ataxia and with or without seizures

Preferred Label : Neurodevelopmental disorder with impaired language and ataxia and with or without seizures;

Symbol : NEDLAS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619580;

Details

Origin ID

619580;

UMLS CUI

C5562006;

Genes related to phenotype
- Glutamate receptor, ionotropic, kainate 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Apnea [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Choreoathetosis [HPO term]
- Clonic seizure [HPO term]
- Congenital horizontal nystagmus [HPO term]
- Congenital nystagmus [HPO term]
- Cyanosis [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Drooling [HPO term]
- Echolalia [HPO term]
- Encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Extra-axial cerebrospinal fluid accumulation [HPO term]
- Focal impaired awareness seizure [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Happy demeanor [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Impulsivity [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Limb hypertonia [HPO term]
- Microcephaly [HPO term]
- Mood swings [HPO term]
- Motor delay [HPO term]
- Myoclonic seizure [HPO term]
- Neonatal onset [HPO term]
- Opisthotonus [HPO term]
- Paroxysmal bursts of laughter [HPO term]
- Protruding tongue [HPO term]
- Recurrent hand flapping [HPO term]
- Short attention span [HPO term]
- Strabismus [HPO term]
- Thin corpus callosum [HPO term]
- Tongue thrusting [HPO term]
- Tonic seizure [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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