Weaver-Williams syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr: 3448
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
2
(HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
3
(HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
4
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
6
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
(HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
8
(HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
9
(HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
10
(HPO:0009796) Branchial cyst Frequent [Orphanet] 32 / 7739
11
(HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
12
(HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
13
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
14
(HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
15
(HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
16
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
17
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
18
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
19
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
(HPO:0009466) Radial deviation of finger Very frequent [Orphanet] 101 / 7739
21
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
22
(HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
23
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
24
(HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
25
(HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
26
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
27
(HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
28
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: