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Aniridia - cerebellar ataxia - intellectual deficit
1 OMIM reference -
1 associated gene
54 connected diseases
10 signs/symptoms
Disease Type of connection
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Isolated anophthalmia - microphthalmia
Waardenburg syndrome type 2
Colobomatous microphthalmia
Septo-optic dysplasia
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Spinocerebellar ataxia type 17
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Microphthalmia - cataract
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alobar holoprosencephaly
Congenital hereditary facial paralysis with variable hearing loss
Familial retinoblastoma
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 13q14
Schizencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Unilateral retinoblastoma
Anophthalmia / microphthalmia - esophageal atresia
Coffin-Siris syndrome
Familial rhabdoid tumor
X-linked dystonia-parkinsonism
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Kallmann syndrome
Myhre syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
46,XX testicular disorder of sex development
Monosomy 22q13
Panhypopituitarism
Precursor B-cell acute lymphoblastic leukemia
X-linked congenital generalized hypertrichosis
X-linked intellectual deficit with isolated growth hormone deficiency
Synonym(s):
- Gillespie syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PAX6 P26367607108
Very frequent
- Aniridia / iris hypoplasia
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Expressionless face / amimia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Hypotonia
- Movement disorder
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Anomalies of ear and hearing
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches