ODCs

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Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Monosomy 22q13

1 OMIM reference -
1 associated gene
35 signs/symptoms

Foveal hypoplasia - presenile cataract

Monosomy 22q13

PAX6

(UniProt - OMIM)

SHANK3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.52)	SHANK3

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Monosomy 22q13
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - 22q13 deletion - Phelan-McDermid syndrome

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Strabismus / squint

Foveal hypoplasia - presenile cataract		Monosomy 22q13
	Very frequent - Anomalies of eyes and vision - Autosomal dominant inheritance - Cataract / lens opacification - Diffuse / generalised skin hyperpigmentation / melanoderma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla		Very frequent - Advanced bone age - Hypotonia - Insensitivity to pain - Large hand - Long / thick / curved lashes / trichomegaly / polytrichia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / hypoplastic toenails Frequent - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Deepset eyes / enophthalmos - Dolichocephaly / scaphocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat face - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Long / large / bulbous nose - Pointed chin - Psychic / behavioural troubles - Ptosis - Puffy eyelids - Sacral sinus / dimple - Thick / bushy eyebrows Occasional - Anomalies of teeth and dentition - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Epicanthic folds - Generalized obesity - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphedema - Macrocephaly / macrocrania / megalocephaly / megacephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Umbilical hernia