Synonym(s): - Del(16)(q24.3) - Monosomy 16q24.3
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		External references: No OMIM references No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ANKRD11	Q6UB99	611192

- Autism / autistic disoders
- High forehead
- Insterstitial / subtelomeric microdeletion / deletion
- Prominent / bat ears

- 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

- 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