Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities

Preferred Label : Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities;

Symbol : NEDSHBA;

CISMeF acronym : NEDSHBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate receptor, metabotropic, 7 gene (GRM7, 604101.0001);

Prefixed ID : #618922;

Details

Origin ID

618922;

UMLS CUI

C5394517;

Genes related to phenotype
- Glutamate receptor, metabotropic, 7 [OMIM gene]
HPO term(s)
- Aspiration [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Death in infancy [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Dysphagia [HPO term]
- Elevated brain choline level by MRS [HPO term]
- Failure to thrive [HPO term]
- Hearing impairment [HPO term]
- Hippocampal atrophy [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Interictal epileptiform activity [HPO term]
- Limb hypertonia [HPO term]
- Lipodystrophy [HPO term]
- Microcephaly [HPO term]
- Nasogastric tube feeding in infancy [HPO term]
- Neonatal respiratory distress [HPO term]
- Panhypopituitarism [HPO term]
- Polyhydramnios [HPO term]
- Recurrent infections [HPO term]
- Reduced brain N-acetyl aspartate level by MRS [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Severe global developmental delay [HPO term]
- Short stature [HPO term]
- Status epilepticus [HPO term]
- Vitamin B12 deficiency [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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