Intellectual deficit, X-linked, Brooks type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE
MRXSBWB
Number of Symptoms 53
OrphanetNr: 3056
OMIM Id: 300612
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

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:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0000490) Deeply set eye 131 / 7739
3
 (HPO:0002162) Low posterior hairline 88 / 7739
4
 (HPO:0000325) Triangular face 91 / 7739
5
 (HPO:0000160) Narrow mouth 188 / 7739
6
 (HPO:0000537) Epicanthus inversus 7 / 7739
7
 (HPO:0005280) Depressed nasal bridge 381 / 7739
8
 (HPO:0000581) Blepharophimosis 197 / 7739
9
 (HPO:0000414) Bulbous nose 63 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0000486) Strabismus 576 / 7739
12
 (HPO:0000639) Nystagmus 555 / 7739
13
 (HPO:0000565) Esotropia 58 / 7739
14
 (HPO:0000648) Optic atrophy 238 / 7739
15
 (HPO:0000545) Myopia 286 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
18
 (HPO:0000378) Cupped ear 34 / 7739
19
 (HPO:0000411) Protruding ear 140 / 7739
20
 (HPO:0001276) Hypertonia 317 / 7739
21
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
22
 (HPO:0010864) Intellectual disability, severe 120 / 7739
23
 (HPO:0001347) Hyperreflexia 363 / 7739
24
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
25
 (HPO:0001250) Seizures 1245 / 7739
26
 (HPO:0000752) Hyperactivity 140 / 7739
27
 (HPO:0002353) EEG abnormality 188 / 7739
28
 (HPO:0001264) Spastic diplegia 24 / 7739
29
 (HPO:0000750) Delayed speech and language development 197 / 7739
30
 (HPO:0002370) Poor coordination 15 / 7739
31
 (HPO:0001371) Flexion contracture 220 / 7739
32
 (HPO:0001182) Tapered finger 93 / 7739
33
 (HPO:0000767) Pectus excavatum 244 / 7739
34
 (HPO:0004322) Short stature 1232 / 7739
35
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
36
 (HPO:0001518) Small for gestational age 107 / 7739
37
 (HPO:0002151) Increased serum lactate 92 / 7739
38
 (HPO:0003199) Decreased muscle mass 27 / 7739
39
 (OMIM) Developmental regression after age 2 years 2 / 7739
40
 (OMIM) Almond-shaped eyes 12 / 7739
41
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
42
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
43
 (OMIM) Bifrontal narrowness 1 / 7739
44
 (OMIM) Malar flatness 1 / 7739
45
 (OMIM) Ventricular enlargement 4 / 7739
46
 (HPO:0012745) Short palpebral fissure 47 / 7739
47
 (OMIM) Decreased weight for age 1 / 7739
48
 (OMIM) Agenesis of the corpus callosum, partial 1 / 7739
49
 (HPO:0002059) Cerebral atrophy 171 / 7739
50
 (OMIM) Defect in oxidative phosphorylation 1 / 7739
51
 (OMIM) Decreased muscle strength 1 / 7739
52
 (OMIM) Self-abuse 1 / 7739
53
 (OMIM) Generalized severe growth retardation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brooks et al. (1994) reported 2 brothers and their nephew with a mental retardation syndrome characterized by a distinct facial appearance and growth retardation. Facial features included triangular face, bifrontal narrowness, malar flatness, blepharophimosis, deeply set eyes, epicanthus ...