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16q24.3 microdeletion syndrome

1 associated gene
46 signs/symptoms

PROTEIN INTERACTIONS: 1

MULIBREY nanism

1 OMIM reference -
1 associated gene
9 signs/symptoms

16q24.3 microdeletion syndrome

MULIBREY nanism

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANKRD11	(0.63)	TRIM37

Citations in the biomedical literature:

16q24.3 microdeletion syndrome		MULIBREY nanism
	Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3		Synonym(s): - MULIBREY dwarfism - Muscle-liver-brain-eye nanism - Perheentupa syndrome - Pericardial constriction - growth failure

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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: elderly Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C538604 / D050336

16q24.3 microdeletion syndrome		MULIBREY nanism
	Very frequent - Autism / autistic disoders - High forehead - Insterstitial / subtelomeric microdeletion / deletion - Prominent / bat ears Frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Philtrum flat / large / featureless / absent cupidon bows - Pointed chin - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Occasional - Abnormal implantation of hair - Anteverted nares / nostrils - Astigmatism - Cardiomyopathy / hypertrophic / dilated - Chronic / relapsing otitis - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - High arched eyebrows - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Long face - Long philtrum - Macrocytic anemia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Myopia - Narrow forehead - Nystagmus - Preauricular / branchial tags / appendages - Proximally set thumb - Scoliosis - Solitary median incisor - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - Thick lips - Triangular face - Undescended / ectopic testes / cryptorchidia / unfixed testes - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Autosomal recessive inheritance - Intrauterine growth retardation - Macrocephaly / macrocrania / megalocephaly / megacephaly - Short stature / dwarfism / nanism - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy Frequent - Broad nasal root - Hepatomegaly / liver enlargement (excluding storage disease)