Walker-Warburg syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WWS
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
Hydrocephalus - agyria - retinal dysplasia
Number of Symptoms 35
OrphanetNr: 899
OMIM Id: 236670
253280
253800
613150
613153
613154
614643
614830
615041
615181
615249
615287
ICD-10: Q04.3
UMLs:
MeSH: D058494
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1.65 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with developmental anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Congenital vitreoretinal dysplasia
 -Rare eye disease
 -Rare genetic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of FKRP
 -Rare genetic disease
Qualitative or quantitative defects of fukutin
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannosyltransferase 1
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannosyltransferase 2
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
5
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
6
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
7
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
8
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
9
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
10
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
11
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
12
 (HPO:0000541) Retinal detachment Very frequent [Orphanet] 87 / 7739
13
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
14
 (HPO:0004327) Abnormality of the vitreous humor Frequent [Orphanet] 14 / 7739
15
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
16
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
18
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
19
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
20
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
22
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
23
 (HPO:0004684) Talipes valgus Very frequent [Orphanet] 28 / 7739
24
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
25
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
26
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
27
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
28
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
30
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
31
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
32
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
33
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
34
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
35
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: