ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 associated genes
32 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

12q14 microdeletion syndrome

LMNA	(UniProt - OMIM)		HMGA2	(UniProt - OMIM)
			LEMD3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.49)	LEMD3

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		12q14 microdeletion syndrome
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		Synonym(s): - Del(12)(q14) - Deletion 12q14 - Monosomy 12q14 - Osteopoikilosis - short stature - intellectual deficit

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - 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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

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

12q14 microdeletion syndrome
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Tremor Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Arnold-Chiari anomaly - Asplenia / polysplenia / spleen lobulation / accessory spleen - Broad nose / nasal bridge - Clinodactyly of fifth finger - Deepset eyes / enophthalmos - Diabetes mellitus - Downturned mouth - Ectopic / horseshoe / fused kidneys - Frontal bossing / prominent forehead - High nasal bridge - Hypotonia - Intestinal / gut / bowel malrotation - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Scoliosis - Small / triangular nares / nostrils - Subcutaneous nodules / lipomas / tumefaction / swelling - Synophris / synophrys - Syringomelia - Thick / bushy eyebrows - Thin / retracted lips - Triangular face
Autosomal dominant limb-girdle muscular dystrophy type 1B
(no data available)