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5 OMIM references -
5 associated genes
No signs/symptoms info
COMMON GENES: 5
PROTEIN INTERACTIONS: 1
8 OMIM references -
8 associated genes
24 signs/symptoms
Congenital muscular dystrophy with cerebellar involvement
Muscle-eye-brain disease

FKRP B3GALNT2
GMPPB FKRP
POMGNT1 FKTN
POMT1 GMPPB
POMT2 LARGE
POMGNT1
POMT1
POMT2


COMMON
GENES
FKRP
GMPPB
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMT1
(0.55)
POMT2



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Muscle-eye-brain disease
B3GALNT2 FKTN LARGE



Congenital muscular dystrophy with cerebellar involvement
Muscle-eye-brain disease

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- MEB syndrome
- Muscle-eye-brain syndrome
- Santavuori congenital muscular dystrophy

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
8 OMIM references -
No MeSH references

Muscle-eye-brain disease

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- EEG anomalies
- Glaucoma
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Myopathy
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Cataract / lens opacification
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Meningocele


Congenital muscular dystrophy with cerebellar involvement

(no data available)