ODCs

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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Microcephalic osteodysplastic primordial dwarfism type 2

1 OMIM reference -
1 associated gene
50 signs/symptoms

17q11 microdeletion syndrome

Microcephalic osteodysplastic primordial dwarfism type 2

NF1	(UniProt - OMIM)	PCNT	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


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

Citations in the biomedical literature:

17q11 microdeletion syndrome		Microcephalic osteodysplastic primordial dwarfism type 2
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - MOPD type II

	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 bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic 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: - Average age of death: - Type of inheritance: autosomal recessive

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

Microcephalic osteodysplastic primordial dwarfism type 2
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Clinodactyly of fifth finger - Delayed bone age - Epiphyseal anomaly - Fine hair - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intrauterine growth retardation - Long / large / bulbous nose - Metaphyseal anomaly - Microcephaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe Frequent - Absent / decreased / thin eyebrows - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Cafe-au-lait spot - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Complete / partial microdontia - Dry / squaly skin / exfoliation - Hyperextensible joints / articular hyperlaxity - Irregular / patchy skin hypopigmentation - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Sensorineural deafness / hearing loss - Thin / hypoplastic ala nasi - Truncal obesity Occasional - Anaemia - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Cerebral vascular anomalies - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperactivity / attention deficit - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Patent ductus arteriosus - Precocious puberty - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Tracheal atresia / stenosis - Transient cerebral ischemia / stroke
17q11 microdeletion syndrome
(no data available)