ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
18 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2H

Miller-Dieker syndrome


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

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2H		Miller-Dieker syndrome
	Synonym(s): - LGMD2H - Limb-girdle muscular dystrophy due to TRIM32 deficiency - Sarcotubular myopathy		Synonym(s): - Lissencephaly due to 17p13.3 deletion - Monosomy 17p13.3 - Telomeric deletion 17p

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054221

Autosomal recessive limb-girdle muscular dystrophy type 2H		Miller-Dieker syndrome
	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		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Anteverted nares / nostrils - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose Frequent - Polyhydramnios - Structural anomalies of the cardio-circulatory system Occasional - Ataxia / incoordination / trouble of the equilibrium - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Omphalocele / exomphalos - Renal disease / nephropathy - Sacral sinus / dimple