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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Bohring-Opitz syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

17q11 microdeletion syndrome

Bohring-Opitz syndrome

NF1	(UniProt - OMIM)		ASXL1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	ASXL1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Bohring-Opitz syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - BOS syndrome - Bohring syndrome - C-like syndrome - Oberklaid-Danks syndrome - Opitz trigonocephaly-like syndrome

	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 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: (no data available)		Epidemiological data: (no data available)

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

Bohring-Opitz syndrome
	Very frequent - Beaked nose - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Camptodactyly of fingers - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coarse / thick hair - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat supraorbital ridge - Hirsutism / hypertrichosis / Increased body hair - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Low hair line-front - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow forehead - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Trigonocephaly - Ulnar deviation of fingers - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Abnormally placed nipples - Anomalies of spine, vertebrae and pelvis - Anterior chamber anomaly - Cleft lip - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Death in infancy - Dilated cerebral ventricles without hydrocephaly - Elbow dislocation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypertelorism - Intestinal / gut / bowel malrotation - Narrow rib cage / thorax - Oral synechiae / abnormal frenulae - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Short rib cage / thorax - Strabismus / squint - Structural anomalies of the pancreas - Supernumerary nipples / polythelia - Synophris / synophrys Occasional - Dandy-Walker anomaly - Hearing loss / hypoacusia / deafness - Inguinal / inguinoscrotal / crural hernia - Myopia - Polyhydramnios - Renal / kidney anomalies - Small foot - Talipes-varus / metatarsal varus
17q11 microdeletion syndrome
(no data available)