Severe X-linked intellectual deficit, Gustavson type

General Information (adopted from Orphanet):

Synonyms, Signs: GUSTAVSON SYNDROME
GUST
Number of Symptoms 18
OrphanetNr: 3078
OMIM Id: 309555
ICD-10: F72.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked recessive optic atrophy
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
5
 (HPO:0001141) Severe visual impairment 11 / 7739
6
 (HPO:0000618) Blindness 124 / 7739
7
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
8
 (HPO:0001257) Spasticity 251 / 7739
9
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
12
 (HPO:0005193) Restricted large joint movement 1 / 7739
13
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
14
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
16
 (OMIM) Severe hearing defect 1 / 7739
17
 (HPO:0003819) Death in childhood 42 / 7739
18
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gustavson et al. (1993) described a 'new' X-linked mental retardation syndrome in 7 male children in 6 separate sibships in 2 generations of a family. The affected individuals were genealogically connected through females who were presumably carriers. In ...