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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
12 OMIM references -
13 associated genes
36 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2M
Walker-Warburg syndrome

FKTN B3GALNT2
B3GNT1
COL4A1
FKRP
FKTN
ISPD
LARGE
POMGNT1
POMGNT2
POMK
POMT1
POMT2
TMEM5


COMMON
GENES
FKTN



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2M
FKTN
Walker-Warburg syndrome
B3GALNT2 B3GNT1 COL4A1 FKRP ISPD
LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2
TMEM5



Autosomal recessive limb-girdle muscular dystrophy type 2M
Walker-Warburg syndrome

Synonym(s):
- LGMD2M

Synonym(s):
- HARD syndrome
- Hydrocephalus - agyria - retinal dysplasia
- Hydrocephalus-agyria-retinal dysplasia syndrome
- WWS

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
12 OMIM references -
1 MeSH reference: D058494

Walker-Warburg syndrome

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Dilated cerebral ventricles without hydrocephaly
- Early death / lethality
- Hydrocephaly
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Retinal detachment
- Retinal / chorioretinal dysplasia / dystrophy
- Talipes-valgus

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Corneal clouding / opacity / vascularisation
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Glaucoma
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micropenis / small penis / agenesis
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Occasional
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Encephalocele / exencephaly
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Microcornea
- Prominent / bat ears
- Seizures / epilepsy / absences / spasms / status epilepticus


Autosomal recessive limb-girdle muscular dystrophy type 2M

(no data available)