Intellectual deficit, X-linked, Cantagrel type

General Information (adopted from Orphanet):

Synonyms, Signs: MRX98
Number of Symptoms 37
OrphanetNr: 85277
OMIM Id: 300912
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000049) Shawl scrotum Frequent [Orphanet] 31 / 7739
2
(HPO:0005484) Postnatal microcephaly 32 / 7739
3
(HPO:0000311) Round face 104 / 7739
4
(HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
5
(HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
6
(HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
7
(HPO:0000252) Microcephaly 832 / 7739
8
(HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
9
(HPO:0000565) Esotropia 58 / 7739
10
(HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0002521) Hypsarrhythmia rare [HPO:skoehler] 43 / 7739
13
(HPO:0000817) Poor eye contact 26 / 7739
14
(HPO:0001257) Spasticity 251 / 7739
15
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0000752) Hyperactivity 140 / 7739
18
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
19
(HPO:0002020) Gastroesophageal reflux 101 / 7739
20
(HPO:0002592) Gastric ulcer Frequent [Orphanet] 39 / 7739
21
(HPO:0001510) Growth delay 295 / 7739
22
(HPO:0001508) Failure to thrive 454 / 7739
23
(HPO:0003011) Abnormality of the musculature Frequent [Orphanet] 47 / 7739
24
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
25
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
26
(HPO:0001419) X-linked recessive inheritance 189 / 7739
27
(HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
28
(OMIM) Poor or absent speech acquisition 1 / 7739
29
(OMIM) Delayed psychomotor development, severe 14 / 7739
30
(HPO:0003577) Congenital onset 133 / 7739
31
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
32
(HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
33
(OMIM) [DEL]Autistic features 43 / 7739
34
(OMIM) No sphincter control 1 / 7739
35
(OMIM) Stereotypical hand movements 1 / 7739
36
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
37
(OMIM) Repetitive movements 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Maldergem et al. (2013) reported 9 affected males from 4 unrelated families with nonsyndromic X-linked mental retardation. One of the families with 2 affected individuals had previously been reported by Cantagrel et al. (2004). The patients had ...
Molecular genetics OMIM In affected males from 3 unrelated families with X-linked mental retardation, Van Maldergem et al. (2013) identified 3 mutations in the KIAA2022 gene. Two of the mutations resulted in premature termination and loss of function (300524.0001 and 300524.0003), ...