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17q12 microdeletion syndrome
1 OMIM reference -
2 associated genes
21 signs/symptoms
COMMON GENES: 2
Classic Mayer-Rokitansky-Küster-Hauser syndrome
1 OMIM reference -
3 associated genes
No signs/symptoms info
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome

HNF1B
(UniProt - OMIM)
 HNF1B
(UniProt - OMIM)
LHX1
(UniProt - OMIM)
 LHX1
(UniProt - OMIM)
TBX6
(UniProt - OMIM)

COMMON
GENES 		HNF1B
LHX1


Citations in the biomedical literature:


17q12 microdeletion syndrome
HNF1B LHX1
Classic Mayer-Rokitansky-Küster-Hauser syndrome
TBX6



17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome

Synonym(s):
- Del(17)(q12)
- Monosomy 17q12
Synonym(s):
- Classic MRKH syndrome
- Classic Rokitansky syndrome
- MRKH syndrome type 1
- Mayer-Rokitansky-Küster-Hauser syndrome type 1
- Rokitansky sequence
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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 -
No MeSH references
17q12 microdeletion syndrome

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Multicystic kidney / renal dysplasia

Frequent
- Diabetes mellitus
- Short stature / dwarfism / nanism

Occasional
- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Autism / autistic disoders
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Oligoamnios
- Renal failure
- Seizures / epilepsy / absences / spasms / status epilepticus
- Shawl scrotum
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis


Classic Mayer-Rokitansky-Küster-Hauser syndrome

(no data available)