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16q24.3 microdeletion syndrome

1 associated gene
46 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
31 signs/symptoms

16q24.3 microdeletion syndrome

KBG syndrome

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	ANKRD11

Citations in the biomedical literature:

16q24.3 microdeletion syndrome		KBG syndrome
	Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3		Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537015


COMMON SIGNS	- Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Pointed chin - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes

16q24.3 microdeletion syndrome		KBG 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 - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Philtrum flat / large / featureless / absent cupidon bows - 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 - 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 - Thick lips - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Ventricular septal defect / interventricular communication - Visual loss / blindness / amblyopia		Very frequent - Abnormal vertebral size / shape - Absent / decreased / thin eyebrows - Anomalies of the ribs - Autosomal dominant inheritance - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Hypertelorism - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Short neck - Simian crease / transverse / unique palmar crease - Syndactyly of fingers / interdigital palm Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Postaxial polydactyly (hand)