Intellectual deficit, X-linked, Vitale type

General Information (adopted from Orphanet):

Synonyms, Signs: MRSS
Number of Symptoms 42
OrphanetNr: 85289
OMIM Id: 300360
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
6
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
7
 (HPO:0000280) Coarse facial features 189 / 7739
8
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
9
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
10
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
11
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
12
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
13
 (HPO:0000581) Blepharophimosis 197 / 7739
14
 (HPO:0009553) Abnormality of the hairline Very frequent [Orphanet] 30 / 7739
15
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
16
 (HPO:0000414) Bulbous nose 63 / 7739
17
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
18
 (HPO:0000385) Small earlobe 9 / 7739
19
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
22
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
23
 (HPO:0001344) Absent speech 57 / 7739
24
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
25
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
26
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
27
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
28
 (HPO:0009381) Short finger 45 / 7739
29
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
30
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
31
 (HPO:0001831) Short toe 52 / 7739
32
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
33
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
34
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
35
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
36
 (OMIM) Small, downslanting palpebral fissures 1 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
39
 (MedDRA:10072883) Brachydactyly 153 / 7739
40
 (OMIM) Large bulbous nose 1 / 7739
41
 (OMIM) Hypoplastic ear lobes 2 / 7739
42
 (OMIM) Lack of speech 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vitale et al. (2001) described a large family in Sardinia, Italy, in which a novel X-linked mental retardation syndrome segregated. The phenotype observed in the 8 affected males included severe mental retardation, lack of speech, coarse face, distinctive ...