Early-onset parkinsonism - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: BASAL GANGLION DISORDER WITH MENTAL RETARDATION
BGMR
WSN
Laxova-Opitz syndrome
waisman syndrome
Number of Symptoms 22
OrphanetNr: 2379
OMIM Id: 311510
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: Rare parkinsonian syndrome due to genetic neurodegenerative disease
 -Rare genetic disease
Rare parkinsonian syndrome due to neurodegenerative disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
4
 (HPO:0100660) Dyskinesia 19 / 7739
5
 (HPO:0002465) Poor speech 31 / 7739
6
 (HPO:0002396) Cogwheel rigidity 6 / 7739
7
 (HPO:0002067) Bradykinesia 62 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002362) Shuffling gait 13 / 7739
12
 (HPO:0000726) Dementia rare [HPO:skoehler] 131 / 7739
13
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
14
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
15
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0001300) Parkinsonism 75 / 7739
18
 (HPO:0002322) Resting tremor 14 / 7739
19
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
20
 (OMIM) No basal ganglion calcification 1 / 7739
21
 (HPO:0001417) X-linked inheritance 173 / 7739
22
 (HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Laxova et al. (1985) reported a kindred with many persons with an X-linked form of early onset parkinsonism, seizures, and megalencephaly. Many of the patients had frontal bossing. General health and longevity appear to have been normal. The ...