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17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Achondrogenesis type 1A

1 OMIM reference -
1 associated gene
28 signs/symptoms

17p13.3 microduplication syndrome

Achondrogenesis type 1A

PAFAH1B1	(UniProt - OMIM)		TRIP11	(UniProt - OMIM)
YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	TRIP11

Citations in the biomedical literature:

17p13.3 microduplication syndrome		Achondrogenesis type 1A
	Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3		Synonym(s): - Achondrogenesis, Houston-Harris type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536015


COMMON SIGNS	- Frontal bossing / prominent forehead - Inguinal / inguinoscrotal / crural hernia - Short neck - Short / small nose

17p13.3 microduplication syndrome		Achondrogenesis type 1A
	Very frequent - Broad nose / nasal bridge - High forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration		Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Mutiple fractures / bone fragility - Polyhydramnios - Rib structure anomalies - Short foot / brachydactyly of toes - Short hand / brachydactyly - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma