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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
3 OMIM references -
4 associated genes
12 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Juvenile amyotrophic lateral sclerosis

CACNG2 ALS2
CDH15 FUS
CTNNB1 SIGMAR1
DOCK8 SPG11
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
TCF4
GRIN1
DYNC1H1
(0.72)
(0.63)
(0.59)
(0.49)
FUS
FUS
FUS
FUS



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11



Autosomal dominant nonsyndromic intellectual deficit
Juvenile amyotrophic lateral sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

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: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

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

Juvenile amyotrophic lateral sclerosis

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Pyramidal syndrome

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pseudobulbar signs / spasmodic laugh and cry

Occasional
- Bladder and ureter anomalies
- Sensitive trouble / deficit


Autosomal dominant nonsyndromic intellectual deficit

(no data available)