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Walker-Warburg syndrome
12 OMIM references -
13 associated genes
61 connected diseases
36 signs/symptoms
Disease Type of connection
Muscle-eye-brain disease
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Familial porencephaly
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2O
Familial isolated dilated cardiomyopathy
Familial vascular leukoencephalopathy
Schizencephaly
Acral dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Chuvash erythrocytosis
Von Hippel-Lindau disease
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Ménière disease
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Proximal myotonic myopathy
Brachydactyly type A2
Brachydactyly type C
Congenital stromal corneal dystrophy
Early-onset autosomal dominant Alzheimer disease
Familial thoracic aortic aneurysm and aortic dissection
Fibronectin glomerulopathy
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Lattice corneal dystrophy type I
Loeys-Dietz syndrome type 1
Metaphyseal anadysplasia
Microcystic corneal dystrophy
Multiple keratoacanthoma, Ferguson-Smith type
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Synonym(s):
- HARD syndrome
- Hydrocephalus - agyria - retinal dysplasia
- Hydrocephalus-agyria-retinal dysplasia syndrome
- WWS
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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:
12 OMIM references -
1 MeSH reference: D058494
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