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12q14 microdeletion syndrome
2 associated genes
32 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Monosomy 13q14
1 OMIM reference -
1 associated gene
31 signs/symptoms
12q14 microdeletion syndrome
Monosomy 13q14

HMGA2
(UniProt - OMIM)
 RB1
(UniProt - OMIM)
LEMD3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HMGA2
(0.81)
RB1


Citations in the biomedical literature:


12q14 microdeletion syndrome
HMGA2 LEMD3
Monosomy 13q14
RB1



12q14 microdeletion syndrome
Monosomy 13q14

Synonym(s):
- Del(12)(q14)
- Deletion 12q14
- Monosomy 12q14
- Osteopoikilosis - short stature - intellectual deficit
Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Broad nose / nasal bridge
- Clinodactyly of fifth finger
- High nasal bridge
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism

12q14 microdeletion syndrome
Monosomy 13q14

Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- 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
- Deepset eyes / enophthalmos
- Diabetes mellitus
- Downturned mouth
- Ectopic / horseshoe / fused kidneys
- Frontal bossing / prominent forehead
- Intestinal / gut / bowel malrotation
- 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


Very frequent
- Helix thickened / sculpted
- Hypertelorism
- Microcephaly
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short hand / brachydactyly
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli