WARBURG MICRO SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: WARBM3
MICRO SYNDROME 3
Number of Symptoms 33
OrphanetNr:
OMIM Id: 614222
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
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:0008734) Decreased testicular size 105 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000581) Blepharophimosis 197 / 7739
5
(HPO:0003196) Short nose 264 / 7739
6
(HPO:0000189) Narrow palate 45 / 7739
7
(HPO:0000294) Low anterior hairline 52 / 7739
8
(HPO:0002714) Downturned corners of mouth 98 / 7739
9
(HPO:0000347) Micrognathia 426 / 7739
10
(HPO:0000248) Brachycephaly 222 / 7739
11
(HPO:0005484) Postnatal microcephaly 32 / 7739
12
(HPO:0000568) Microphthalmia 183 / 7739
13
(HPO:0000252) Microcephaly 832 / 7739
14
(HPO:0000482) Microcornea 102 / 7739
15
(HPO:0000594) Shallow anterior chamber 8 / 7739
16
(HPO:0000639) Nystagmus 555 / 7739
17
(HPO:0000648) Optic atrophy 238 / 7739
18
(HPO:0000518) Cataract 454 / 7739
19
(HPO:0000400) Macrotia 108 / 7739
20
(HPO:0001250) Seizures 1245 / 7739
21
(HPO:0002187) Intellectual disability, profound 44 / 7739
22
(HPO:0002510) Spastic tetraplegia 54 / 7739
23
(HPO:0011448) Ankle clonus 31 / 7739
24
(HPO:0001371) Flexion contracture 220 / 7739
25
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
26
(HPO:0002751) Kyphoscoliosis 131 / 7739
27
(HPO:0008897) Postnatal growth retardation 113 / 7739
28
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
29
(HPO:0002119) Ventriculomegaly 253 / 7739
30
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
32
(HPO:0002126) Polymicrogyria 64 / 7739
33
(HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bem et al. (2011) reported 6 consanguineous families, 5 Pakistani and 1 Turkish, segregating Warburg Micro syndrome. All of the affected children had microcephaly, brachycephaly, microphthalmia, microcornea, low anterior hairline, large protruding pinnae, and downturned mouth corners. The ...
Molecular genetics OMIM In affected members of 5 large consanguineous families, 4 Pakistani and 1 Turkish, segregating Warburg Micro syndrome, Bem et al. (2011) identified homozygous loss-of-function mutations in the RAB18 gene (602207.0001 and 602207.0002, respectively). The mutation in the Pakistani ...