Intellectual deficit, X-linked - dysmorphism - cerebral atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH DYSMORPHISM AND CEREBRAL ATROPHY
MENTAL RETARDATION, X-LINKED, SYNDROMIC 2
MRXS2
PRS
Prieto-Badia-Mulas syndrome
Number of Symptoms 54
OrphanetNr: 2958
OMIM Id: 309610
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[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:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000164) Abnormality of the teeth 291 / 7739
4
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
5
 (HPO:0000278) Retrognathia 100 / 7739
6
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
7
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0000448) Prominent nose 56 / 7739
10
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
11
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
12
 (HPO:0010620) Malar prominence Occasional [Orphanet] 7 / 7739
13
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
14
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
15
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
16
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
17
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
18
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
19
 (HPO:0000369) Low-set ears 372 / 7739
20
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
21
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
22
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
23
 (HPO:0001249) Intellectual disability 1089 / 7739
24
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
25
 (HPO:0001762) Talipes equinovarus 309 / 7739
26
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
27
 (HPO:0000878) 11 pairs of ribs 19 / 7739
28
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
29
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
30
 (HPO:0002673) Coxa valga 57 / 7739
31
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
32
 (HPO:0010499) Patellar subluxation 3 / 7739
33
 (HPO:0000939) Osteoporosis 129 / 7739
34
 (HPO:0002999) Patellar dislocation Frequent [Orphanet] 46 / 7739
35
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
36
 (HPO:0009466) Radial deviation of finger 101 / 7739
37
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
38
 (HPO:0000023) Inguinal hernia 181 / 7739
39
 (HPO:0100276) Skin pit 1 / 7739
40
 (HPO:0000951) Abnormality of the skin 147 / 7739
41
 (HPO:0010781) Skin dimples 5 / 7739
42
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
43
 (HPO:0010547) Muscle flaccidity 466 / 7739
44
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
45
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
46
 (HPO:0001324) Muscle weakness 859 / 7739
47
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
48
 (OMIM) Double row lower incisors 1 / 7739
49
 (HPO:0002059) Cerebral atrophy 171 / 7739
50
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
51
 (MedDRA:10058668) Clinodactyly 91 / 7739
52
 (HPO:0030084) Clinodactyly 90 / 7739
53
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
54
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Prieto et al. (1987) described 8 males in 3 sibships who had a growth syndrome characterized by mental retardation, facial dysmorphism, abnormal dental growth, skin dimple at the lower back, clinodactyly, patella luxation, and subcortical cerebral atrophy.