WARBURG MICRO SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr:
OMIM Id: 615663
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000046) Scrotal hypoplasia 54 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0008734) Decreased testicular size 105 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000160) Narrow mouth 188 / 7739
6
(HPO:0000431) Wide nasal bridge 290 / 7739
7
(HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
8
(HPO:0000568) Microphthalmia 183 / 7739
9
(HPO:0005484) Postnatal microcephaly 32 / 7739
10
(HPO:0000490) Deeply set eye 131 / 7739
11
(HPO:0000294) Low anterior hairline 52 / 7739
12
(HPO:0000648) Optic atrophy 238 / 7739
13
(HPO:0000508) Ptosis 459 / 7739
14
(HPO:0000519) Congenital cataract 73 / 7739
15
(HPO:0000501) Glaucoma 180 / 7739
16
(HPO:0000482) Microcornea 102 / 7739
17
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
18
(HPO:0002510) Spastic tetraplegia 54 / 7739
19
(HPO:0010864) Intellectual disability, severe 120 / 7739
20
(HPO:0001371) Flexion contracture 220 / 7739
21
(HPO:0008850) Severe postnatal growth retardation 16 / 7739
22
(HPO:0001007) Hirsutism rare [HPO:skoehler] 91 / 7739
23
(HPO:0003199) Decreased muscle mass 27 / 7739
24
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
(HPO:0001272) Cerebellar atrophy 197 / 7739
26
(HPO:0007095) Frontoparietal polymicrogyria 4 / 7739
27
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
28
(HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: