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2 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

Acrodysostosis

17p13.3 microduplication syndrome

PDE4D	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
PRKAR1A	(UniProt - OMIM)		YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDE4D	(0.68)	PAFAH1B1

Citations in the biomedical literature:

Acrodysostosis		17p13.3 microduplication syndrome
	Synonym(s): - Acrodysplasia - Arkless-Graham syndrome - Maroteaux-Malamut syndrome		Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 2 OMIM references - 1 MeSH reference: C538179		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Broad nose / nasal bridge - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Short / small nose

Acrodysostosis		17p13.3 microduplication syndrome
	Very frequent - Abnormal vertebral size / shape - Advanced bone age - Cone epiphyses / epiphysis - Depressed nasal bridge - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Mouth held open - Nails anomalies - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mesomelic micromelia - Peripheral neuropathy - Prognathism / prognathia - Rachidian / spine canal stenosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Autosomal dominant inheritance - Dental malocclusion - Epicanthic folds - Late puberty / hypogonadism / hypogenitalism - Pigmented naevi / naevus pigmentosus / lentigo		Very frequent - Frontal bossing / prominent forehead - High forehead - Hypotonia - Microstomia / little mouth Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck 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 - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration