Intellectual deficit, X-linked, Wittwer type

General Information (adopted from Orphanet):

Synonyms, Signs: WTRS
Wittwer syndrome
Number of Symptoms 39
OrphanetNr: 85291
OMIM Id: 300421
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked 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
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
7
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
8
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
9
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
10
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
11
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
12
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
13
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
14
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
15
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
16
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
17
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
18
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
19
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
20
 (HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
21
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
22
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
25
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
26
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
27
 (HPO:0000924) Abnormality of the skeletal system Frequent [Orphanet] 114 / 7739
28
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
29
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
30
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
31
 (HPO:0000765) Abnormality of the thorax Occasional [Orphanet] 64 / 7739
32
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0001510) Growth delay 295 / 7739
35
 (HPO:0002216) Premature graying of hair Occasional [Orphanet] 43 / 7739
36
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
37
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
39
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wittwer et al. (1996) reported a family in which 3 males related as first cousins through carrier sisters had a novel X-linked mental retardation syndrome. Typical features included prenatal and severe postnatal growth retardation, blindness due to microphthalmia ...