ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
14 signs/symptoms

Alpha-N-acetylgalactosaminidase deficiency type 3

Alpha-N-acetylgalactosaminidase deficiency type 2

NAGA

Citations in the biomedical literature:

Alpha-N-acetylgalactosaminidase deficiency type 3		Alpha-N-acetylgalactosaminidase deficiency type 2
	Synonym(s): - NAGA deficiency type 3 - Schindler disease type 3		Synonym(s): - Adult-onset Alpha-N-acetylgalactosaminidase deficiency - Kanzaki disease - NAGA deficiency type 2 - Schindler disease type 2

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability

Alpha-N-acetylgalactosaminidase deficiency type 3		Alpha-N-acetylgalactosaminidase deficiency type 2
	Very frequent - Autism / autistic disoders - Cataract / lens opacification - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint Frequent - Cardiomyopathy / hypertrophic / dilated - Hepatomegaly / liver enlargement (excluding storage disease)		Very frequent - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Telangiectasiae of the skin - Vascular anomalies of skin / mucosae Frequent - Cardiomegaly - Coarse face - Corneal clouding / opacity / vascularisation - Depressed nasal bridge - Hearing loss / hypoacusia / deafness - Lymphedema - Peripheral neuropathy - Thick lips - Tinnitus