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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Geroderma osteodysplastica

1 OMIM reference -
2 associated genes
26 signs/symptoms

17q11 microdeletion syndrome

Geroderma osteodysplastica

NF1	(UniProt - OMIM)		GORAB	(UniProt - OMIM)
RNF135	(UniProt - OMIM)		PYCR1	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	PYCR1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Geroderma osteodysplastica
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Walt Disney dwarfism

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537799

Geroderma osteodysplastica
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Autosomal recessive inheritance - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Loose skin / skin relaxation / excess skin / creases - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism - Thin skin Frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypotonia - Scoliosis Occasional - Anomalies of eyes and vision - Epiphyseal anomaly - Flat cheek bones / malar hypoplasia - Flat foot - Herniae - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcornea - Pectus carinatum - Platyspondyly - Premature ageing - Prognathism / prognathia - Talipes-varus / metatarsal varus
17q11 microdeletion syndrome
(no data available)