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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

16q24.3 microdeletion syndrome

1 associated gene
46 signs/symptoms

Atelosteogenesis type I

16q24.3 microdeletion syndrome

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Atelosteogenesis type I		16q24.3 microdeletion syndrome
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3

	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

	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: before age 5 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: 1 OMIM reference - 1 MeSH reference: C535396		External references: No OMIM references No MeSH references

16q24.3 microdeletion syndrome
	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
Atelosteogenesis type I
(no data available)