Developmental malformations - deafness - dystonia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 40
OrphanetNr: 79107
OMIM Id: 607371
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Rare disorder with dystonia and other neurologic or systemic manifestation
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000204) Cleft upper lip 193 / 7739
2
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
3
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
4
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
8
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
10
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
11
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
12
 (HPO:0001256) Intellectual disability, mild 141 / 7739
13
 (HPO:0007325) Generalized dystonia 7 / 7739
14
 (HPO:0011342) Mild global developmental delay 10 / 7739
15
 (HPO:0001332) Dystonia Very frequent [Orphanet] 197 / 7739
16
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
17
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
18
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
19
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
20
 (HPO:0008796) Externally rotated hips 1 / 7739
21
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
22
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
23
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
24
 (HPO:0002751) Kyphoscoliosis 131 / 7739
25
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
26
 (HPO:0002571) Achalasia Very frequent [Orphanet] 19 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0001518) Small for gestational age 107 / 7739
29
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
30
 (OMIM) Actin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum 1 / 7739
31
 (OMIM) Limited vision 1 / 7739
32
 (OMIM) Developmental delay, mild 8 / 7739
33
 (OMIM) Actin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neurons 1 / 7739
34
 (OMIM) Dystonia, generalized, dopa-unresponsive 1 / 7739
35
 (OMIM) Small for age 1 / 7739
36
 (HPO:0100613) Death in early adulthood Very frequent [Orphanet] 10 / 7739
37
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
38
 (OMIM) Antecolis 1 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
40
 (OMIM) Subnormal cognition 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gearing et al. (2002) reported the cases of male twins with the onset at age 12 years of rapidly progressive, dopa-unresponsive generalized dystonia. They found extensive neurologic involvement of the cortex and basal ganglia of a novel type ...
Molecular genetics OMIM In the monozygotic twins reported by Gearing et al. (2002), Procaccio et al. (2006) identified a heterozygous missense mutation, arg183 to trp (102630.0001), in the beta-actin gene as the cause of the neurologic syndrome.