Deaf blind hypopigmentation syndrome, Yemenite type

General Information (adopted from Orphanet):

Synonyms, Signs: Warburg-Thomsen syndrome
Number of Symptoms 31
OrphanetNr: 3214
OMIM Id: 601706
ICD-10:
UMLs: C1866425
MeSH: C536771
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
2
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
3
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
4
 (HPO:0000679) Taurodontia Occasional [Orphanet] 27 / 7739
5
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
6
 (HPO:0001572) Macrodontia Very frequent [Orphanet] 9 / 7739
7
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
8
 (HPO:0001107) Ocular albinism Frequent [Orphanet] 40 / 7739
9
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
10
 (HPO:0011484) Posterior synechiae of the anterior chamber Frequent [Orphanet] 5 / 7739
11
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
12
 (HPO:0000611) Choroid coloboma 12 / 7739
13
 (HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
14
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
15
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
16
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
17
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
18
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
19
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
20
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
21
 (HPO:0000957) Cafe-au-lait spot Very frequent [Orphanet] 84 / 7739
22
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 80 / 7739
23
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739
24
 (HPO:0007587) Numerous pigmented freckles Very frequent [Orphanet] 22 / 7739
25
 (HPO:0002211) White forelock 18 / 7739
26
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
27
 (HPO:0007509) Patchy hypo- and hyperpigmentation 2 / 7739
28
 (OMIM) Multiple freckles 1 / 7739
29
 (OMIM) Severe early sensorineural hearing loss 1 / 7739
30
 (OMIM) White anterior scalp hair 1 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Warburg et al. (1990) reported a sister and brother from Yemen with a hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation. They proposed that the ...
Molecular genetics OMIM - Exclusion Studies

In the patients reported by Warburg et al. (1990), Bondurand et al. (1999) excluded mutations in the SOX10 gene (602229).