Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures

General Information (adopted from Orphanet):

Synonyms, Signs: PETTIGREW SYNDROME
MENTAL RETARDATION, X-LINKED, SYNDROMIC 5
MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASAL GANGLIA DISEASE, AND SEIZURES
MRXS5
PGS
Number of Symptoms 35
OrphanetNr: 1568
OMIM Id: 304340
ICD-10: Q23.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 16 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Syndrome with a Dandy-Walker malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0000276) Long face 109 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000448) Prominent nose 56 / 7739
5
 (HPO:0000154) Wide mouth 137 / 7739
6
 (HPO:0000280) Coarse facial features 189 / 7739
7
 (HPO:0001305) Dandy-Walker malformation rare [HPO:skoehler] 79 / 7739
8
 (HPO:0012471) Thick vermilion border 115 / 7739
9
 (HPO:0000303) Mandibular prognathia 179 / 7739
10
 (HPO:0000490) Deeply set eye 131 / 7739
11
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
12
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
16
 (HPO:0005101) High-frequency hearing impairment 16 / 7739
17
 (HPO:0001266) Choreoathetosis 57 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0002066) Gait ataxia 327 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0001347) Hyperreflexia 363 / 7739
22
 (HPO:0001257) Spasticity 251 / 7739
23
 (HPO:0001250) Seizures 1245 / 7739
24
 (HPO:0100716) Self-injurious behavior 43 / 7739
25
 (HPO:0002650) Scoliosis 705 / 7739
26
 (HPO:0002514) Cerebral calcification rare [HPO:skoehler] 89 / 7739
27
 (HPO:0001371) Flexion contracture 220 / 7739
28
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
29
 (HPO:0001252) Muscular hypotonia 990 / 7739
30
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
31
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
32
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
33
 (HPO:0002134) Abnormality of the basal ganglia 13 / 7739
34
 (HPO:0001417) X-linked inheritance 173 / 7739
35
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a 4-generation family of Dutch descent, Pettigrew et al. (1991) described a distinct X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations included severe mental retardation, early hypotonia with progression ...