ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Autosomal recessive limb-girdle muscular dystrophy type 2H


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	TRIM32

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Autosomal recessive limb-girdle muscular dystrophy type 2H
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - LGMD2H - Limb-girdle muscular dystrophy due to TRIM32 deficiency - Sarcotubular myopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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

Autosomal recessive limb-girdle muscular dystrophy type 2H
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance - Expressionless face / amimia - Myopathy Frequent - Tall stature / gigantism / growth acceleration
Distal 17p13.3 microdeletion syndrome
(no data available)