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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

X-linked Charcot-Marie-Tooth disease type 5

1 OMIM reference -
1 associated gene
22 signs/symptoms

Distal 17p13.3 microdeletion syndrome

X-linked Charcot-Marie-Tooth disease type 5

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	PRPS1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		X-linked Charcot-Marie-Tooth disease type 5
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - CMT5X - CMTX5

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic 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: - Average age onset: - Average age of death: - Type of inheritance: x-linked recessive

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

X-linked Charcot-Marie-Tooth disease type 5
	Very frequent - Areflexia / hyporeflexia - Flat palm - Hearing loss / hypoacusia / deafness - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked recessive inheritance Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Hemiplegia / diplegia / hemiparesia / limb palsy - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor
Distal 17p13.3 microdeletion syndrome
(no data available)