X-linked intellectual deficit - cerebellar hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 60, FORMERLY
MRX60, FORMERLY
Oligophrenin-1 syndrome
OPHN1 syndrome
Number of Symptoms 54
OrphanetNr: 137831
OMIM Id: 300486
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a cerebellar malformation as major feature
 -Rare genetic disease
Syndrome with a cerebellar 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:0000054) Micropenis 257 / 7739
2
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0000028) Cryptorchidism 347 / 7739
5
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
6
 (HPO:0000601) Hypotelorism 83 / 7739
7
 (HPO:0011220) Prominent forehead 137 / 7739
8
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
9
 (HPO:0003189) Long nose 20 / 7739
10
 (HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
11
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
12
 (HPO:0000322) Short philtrum 130 / 7739
13
 (HPO:0000303) Mandibular prognathia 179 / 7739
14
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
15
 (HPO:0000256) Macrocephaly 298 / 7739
16
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
17
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
18
 (HPO:0000639) Nystagmus 555 / 7739
19
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
20
 (HPO:0000400) Macrotia 108 / 7739
21
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
24
 (HPO:0000750) Delayed speech and language development 197 / 7739
25
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
26
 (HPO:0001263) Global developmental delay 853 / 7739
27
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
28
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
29
 (HPO:0001257) Spasticity 251 / 7739
30
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
31
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
32
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
 (HPO:0010547) Muscle flaccidity 466 / 7739
34
 (HPO:0001324) Muscle weakness 859 / 7739
35
 (OMIM) [DEL]Autistic features 43 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
37
 (OMIM) Marked infraorbital creases 1 / 7739
38
 (OMIM) Decreased cerebral volume, especially of the frontal lobes 1 / 7739
39
 (HPO:0030260) Microphallus 6 / 7739
40
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
41
 (OMIM) Mental retardation, mild, in most carrier females 1 / 7739
42
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
43
 (HPO:0007065) Disorganization of the anterior cerebellar vermis 1 / 7739
44
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
45
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
46
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
47
 (HPO:0006951) Retrocerebellar cyst 6 / 7739
48
 (OMIM) Upturned philtrum 1 / 7739
49
 (OMIM) Mental retardation, moderate to severe 20 / 7739
50
 (HPO:0002280) Enlarged cisterna magna 12 / 7739
51
 (OMIM) Long, tubular nose 1 / 7739
52
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
53
 (HPO:0003593) Infantile onset 249 / 7739
54
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Billuart et al. (1998) reported a large family in which 4 males had X-linked mental retardation. Des Portes et al. (2004) performed clinical and 3-dimensional brain MRI evaluations on the affected males of the family studied by Billuart ...
Molecular genetics OMIM In a family with X-linked mental retardation, Billuart et al. (1998) identified a 1-bp deletion in the OPHN1 gene (300127.0001). All 4 affected males had the mutation and 7 unaffected females carried the mutation.

Philip et ...