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13 OMIM references -
14 associated genes
No signs/symptoms info
COMMON GENES: 1
3 OMIM references -
4 associated genes
15 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Hereditary sensory and autonomic neuropathy type 2

CACNG2 FAM134B
CDH15 KIF1A
CTNNB1 SCN9A
DOCK8 WNK1
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


COMMON
GENES
KIF1A



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Hereditary sensory and autonomic neuropathy type 2
FAM134B SCN9A WNK1



Autosomal dominant nonsyndromic intellectual deficit
Hereditary sensory and autonomic neuropathy type 2

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal recessive sensory radicular neuropathy
- HSAN2
- Neurogenic acroosteolysis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

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

External references:
13 OMIM references -
No MeSH references
External references:
3 OMIM references -
No MeSH references

Hereditary sensory and autonomic neuropathy type 2

Very frequent
- Ankle anomalies
- Autosomal recessive inheritance
- Cortical anomaly / thick bone cortical layer
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Epiphyseal anomaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperhidrosis / increased sweating
- Knee anomalies (excluding patella)
- Lordosis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Tapered fingers
- Wormian bones



Autosomal dominant nonsyndromic intellectual deficit

(no data available)