Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED
CADDS, INCLUDED
Number of Symptoms 20
OrphanetNr: 369939
OMIM Id: 300475
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disorder with dystonia and other neurologic or systemic manifestation
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
10
 (HPO:0010864) Intellectual disability, severe 120 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0001332) Dystonia 197 / 7739
13
 (HPO:0002445) Tetraplegia 26 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0002059) Cerebral atrophy 171 / 7739
16
 (HPO:0003429) CNS hypomyelination 21 / 7739
17
 (HPO:0001272) Cerebellar atrophy 197 / 7739
18
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
19
 (OMIM) Abnormal liver enzymes during illness 2 / 7739
20
 (HPO:0006808) Cerebral hypomyelination 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013).
Clinical Description OMIM Cacciagli et al. (2013) reported 7 males from 3 unrelated families with severe syndromic X-linked mental retardation apparent at birth or in the first years of life and almost no apparent motor or cognitive development. The oldest patients ...
Molecular genetics OMIM In 7 affected males from 3 unrelated families with an X-linked mental retardation syndrome characterized by deafness, dystonia, and central hypomyelination, Cacciagli et al. (2013) identified 3 different hemizygous mutations in the BCAP31 gene (300398.0001-300398.0003). All mutations caused ...