WARBURG MICRO SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MICRO SYNDROME
WARBM1
Number of Symptoms 33
OrphanetNr:
OMIM Id: 600118
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0003241) External genital hypoplasia 25 / 7739
3
(HPO:0000568) Microphthalmia 183 / 7739
4
(HPO:0000252) Microcephaly 832 / 7739
5
(HPO:0000490) Deeply set eye 131 / 7739
6
(HPO:0000347) Micrognathia 426 / 7739
7
(HPO:0000519) Congenital cataract 73 / 7739
8
(HPO:0000648) Optic atrophy 238 / 7739
9
(HPO:0000508) Ptosis 459 / 7739
10
(HPO:0000482) Microcornea 102 / 7739
11
(HPO:0000400) Macrotia 108 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0001347) Hyperreflexia 363 / 7739
14
(HPO:0001264) Spastic diplegia 24 / 7739
15
(HPO:0005692) Joint hyperflexibility 20 / 7739
16
(HPO:0001845) Overlapping toe 18 / 7739
17
(HPO:0001382) Joint hypermobility 231 / 7739
18
(HPO:0002751) Kyphoscoliosis 131 / 7739
19
(HPO:0000939) Osteoporosis 129 / 7739
20
(HPO:0001388) Joint laxity 117 / 7739
21
(HPO:0001508) Failure to thrive 454 / 7739
22
(HPO:0004322) Short stature 1232 / 7739
23
(HPO:0002219) Facial hypertrichosis 8 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0001252) Muscular hypotonia 990 / 7739
26
(HPO:0001324) Muscle weakness 859 / 7739
27
(HPO:0010547) Muscle flaccidity 466 / 7739
28
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
29
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
30
(HPO:0002059) Cerebral atrophy 171 / 7739
31
(OMIM) Deformities of metatarsal bones (rare) 1 / 7739
32
(OMIM) Cerebral malformation 3 / 7739
33
(HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). ...
Clinical Description OMIM Warburg et al. (1993) used the designation Micro syndrome for an autosomal recessive syndrome comprising microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. They described an affected brother and sister and their male cousin. The sibs ...
Molecular genetics OMIM Aligianis et al. (2005) identified inactivating mutations in the RAB3GAP1 gene (e.g., 602536.0001) in 5 kindreds with Warburg Micro syndrome linked to chromosome 2q21.3, 2 of which had previously been described by Ainsworth et al. (2001), but not ...