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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 associated genes
32 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
12q14 microdeletion syndrome

LMNA HMGA2
LEMD3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
12q14 microdeletion syndrome
HMGA2 LEMD3



Dilated cardiomyopathy - hypergonadotropic hypogonadism
12q14 microdeletion syndrome

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

Synonym(s):
- Del(12)(q14)
- Deletion 12q14
- Monosomy 12q14
- Osteopoikilosis - short stature - intellectual deficit

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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


COMMON
SIGNS
- Broad nose / nasal bridge


Dilated cardiomyopathy - hypergonadotropic hypogonadism
12q14 microdeletion syndrome

Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



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
- 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