X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS10
MENTAL RETARDATION WITH CHORIOATHETOSIS AND ABNORMAL BEHAVIOR
CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR
CAMR
Syndromic X-linked intellectual disability type 10
Number of Symptoms 22
OrphanetNr: 85295
OMIM Id: 300220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: HSD10 disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001257) Spasticity 251 / 7739
2
 (HPO:0001270) Motor delay 322 / 7739
3
 (HPO:0000713) Agitation 18 / 7739
4
 (HPO:0000738) Hallucinations 60 / 7739
5
 (HPO:0001266) Choreoathetosis 57 / 7739
6
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001260) Dysarthria 329 / 7739
9
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
10
 (HPO:0002136) Broad-based gait 30 / 7739
11
 (HPO:0000718) Aggressive behavior 109 / 7739
12
 (HPO:0001347) Hyperreflexia 363 / 7739
13
 (HPO:0000709) Psychosis 61 / 7739
14
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
15
 (HPO:0001166) Arachnodactyly 62 / 7739
16
 (HPO:0009062) Infantile axial hypotonia 3 / 7739
17
 (HPO:0003593) Infantile onset 249 / 7739
18
 (OMIM) Automutilation 1 / 7739
19
 (OMIM) Hypertonia later 3 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
21
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
22
 (OMIM) Mental retardation, mild to moderate 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reyniers et al. (1999) described a 'new' neurologic syndrome in 5 patients from a 4-generation Luxembourg family. The features were mild mental retardation with choreoathetosis and abnormal behavior. Choreoathetosis, the most distinguishing feature in these 5 patients, is ...
Molecular genetics OMIM In all patients and carrier females in the family described by Reyniers et al. (1999), Lenski et al. (2007) identified a mutation in the HADH2 (HSD17B10) gene (574C-A; 300256.0004), which encodes L-3-hydroxyacyl-CoA dehydrogenase II. The mutation was absent ...