Partington syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PARTINGTON SYNDROME
MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES
MENTAL RETARDATION, X-LINKED, SYNDROMIC 1
MENTAL RETARDATION, X-LINKED 36
MRXS1
PRTS
MRX36
X-linked intellectual deficit - dystonia - dysarthria
Partington-Mulley syndrome
Number of Symptoms 14
OrphanetNr: 94083
OMIM Id: 309510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ARX-related epileptic encephalopathy
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000325) Triangular face 91 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0000750) Delayed speech and language development 197 / 7739
4
 (HPO:0002451) Limb dystonia 16 / 7739
5
 (HPO:0002061) Lower limb spasticity 56 / 7739
6
 (HPO:0004373) Focal dystonia 9 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0002353) EEG abnormality 188 / 7739
10
 (HPO:0001371) Flexion contracture 220 / 7739
11
 (OMIM) Focal dystonia, usually of the hands 1 / 7739
12
 (OMIM) Lower limb dystonia 1 / 7739
13
 (OMIM) Long, triangular face 1 / 7739
14
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of ...
Clinical Description OMIM Partington et al. (1988) described a family (MRXS1) in which 10 males widely distributed in the pedigree and connected through females showed a syndrome of mild to moderate mental retardation and episodic dystonic movements of the hands. Some ...
Molecular genetics OMIM In the original Australian family reported by Partington et al. (1988) and in the unrelated Belgian family reported by Frints et al. (2002), Stromme et al. (2002) found an expanded alanine repeat in the ARX gene. The polyA ...