Syndromic X-linked intellectual deficit due to JARID1C mutation

General Information (adopted from Orphanet):

Synonyms, Signs: MRXSCJ
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED
MRXSJ
Number of Symptoms 69
OrphanetNr: 85279
OMIM Id: 300534
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 2/9 [HPO:probinson] 18697827 IBIS 105 / 7739
3
 (HPO:0000054) Micropenis 257 / 7739
4
 (HPO:0000699) Diastema 10 / 7739
5
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
6
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
7
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
8
 (HPO:0000221) Furrowed tongue 24 / 7739
9
 (HPO:0000297) Facial hypotonia 8 / 7739
10
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
11
 (HPO:0000303) Mandibular prognathia 179 / 7739
12
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000319) Smooth philtrum 72 / 7739
15
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
16
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
17
 (HPO:0000252) Microcephaly Occasional [Orphanet] 2/9 [HPO:probinson] 18697827 IBIS 832 / 7739
18
 (HPO:0000350) Small forehead 2 / 7739
19
 (HPO:0000218) High palate 3/9 [HPO:probinson] 18697827 IBIS 356 / 7739
20
 (HPO:0000540) Hypermetropia 99 / 7739
21
 (HPO:0000486) Strabismus Occasional [Orphanet] 2/9 [HPO:probinson] 576 / 7739
22
 (HPO:0000545) Myopia 286 / 7739
23
 (HPO:0000400) Macrotia 108 / 7739
24
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
25
 (HPO:0001250) Seizures Frequent [Orphanet] 3/9 [HPO:probinson] 18697827 IBIS 1245 / 7739
26
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
27
 (HPO:0007020) Progressive spastic paraplegia 5 / 7739
28
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
29
 (HPO:0003487) Babinski sign 179 / 7739
30
 (HPO:0002362) Shuffling gait 13 / 7739
31
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
32
 (HPO:0000711) Restlessness 18 / 7739
33
 (HPO:0010864) Intellectual disability, severe 120 / 7739
34
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
35
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
36
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
37
 (HPO:0006895) Lower limb hypertonia 4 / 7739
38
 (HPO:0000744) Low frustration tolerance 3 / 7739
39
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
40
 (HPO:0000718) Aggressive behavior 4/9 [HPO:probinson] 18697827 IBIS 109 / 7739
41
 (HPO:0001176) Large hands 43 / 7739
42
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
43
 (HPO:0000767) Pectus excavatum 244 / 7739
44
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
45
 (HPO:0008124) Talipes calcaneovarus 1 / 7739
46
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
47
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
48
 (HPO:0001773) Short foot 86 / 7739
49
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
50
 (HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
51
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
52
 (HPO:0004322) Short stature Frequent [Orphanet] 5/9 [HPO:probinson] 18697827 IBIS 1232 / 7739
53
 (HPO:0002229) Alopecia areata 5 / 7739
54
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
55
 (HPO:0008944) Distal lower limb amyotrophy 12 / 7739
56
 (MedDRA:10072883) Brachydactyly 153 / 7739
57
 (OMIM) Slowly progressive spastic paraplegia 2 / 7739
58
 (OMIM) [DEL]Autistic features 43 / 7739
59
 (OMIM) Pyramidal syndrome of the lower limbs 1 / 7739
60
 (OMIM) Indolence 1 / 7739
61
 (OMIM) Small eyelashes 1 / 7739
62
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
63
 (OMIM) Outbursts 1 / 7739
64
 (OMIM) Thick distal phalanges 1 / 7739
65
 (OMIM) Small, deep-set eyes 2 / 7739
66
 (OMIM) Abundant body hair 1 / 7739
67
 (OMIM) Raised earlobes 1 / 7739
68
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
69
 (OMIM) Talipes calcaneus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Claes et al. (2000) described a kindred in which 4 males in 2 generations in an X-linked recessive pedigree pattern had severe mental retardation, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia.

Jensen et al. ...
Molecular genetics OMIM In a systematic screen of brain-expressed genes from the proximal Xp and pericentromeric regions of the X chromosome in 210 families with X-linked mental retardation, Jensen et al. (2005) identified 7 different mutations in JARID1C (314690), including 1 ...