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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Pyridoxine-dependent epilepsy

1 OMIM reference -
1 associated gene
12 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Pyridoxine-dependent epilepsy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	ALDH7A1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Pyridoxine-dependent epilepsy
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - Glutamate decarboxylase deficiency - Pyridoxine-responsive seizures - Vitamin B6-responsive seizures

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536254

Pyridoxine-dependent epilepsy
	Very frequent - Autosomal recessive inheritance - EEG anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Metabolic anomalies - Movement disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Hypotonia Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - Strabismus / squint
Distal 17p13.3 microdeletion syndrome
(no data available)