Microduplication Xp11.22-p11.23 syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Trisomy Xp11.22-p11.23
Number of Symptoms 32
OrphanetNr: 217377
OMIM Id: 300801
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial duplication of the short arm of chromosome X
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
2
 (HPO:0100962) Shyness 2 / 7739
3
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
4
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
5
 (HPO:0002465) Poor speech 31 / 7739
6
 (HPO:0006889) Intellectual disability, borderline 6 / 7739
7
 (HPO:0002121) Absence seizures 62 / 7739
8
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
 (HPO:0100000) Early onset of sexual maturation 9 / 7739
10
 (HPO:0000826) Precocious puberty Frequent [Orphanet] 42 / 7739
11
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
12
 (HPO:0001761) Pes cavus Frequent [Orphanet] 225 / 7739
13
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
14
 (HPO:0001159) Syndactyly 140 / 7739
15
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
16
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
17
 (HPO:0001611) Nasal speech 48 / 7739
18
 (HPO:0001609) Hoarse voice 34 / 7739
19
 (OMIM) Poor speech articulation 1 / 7739
20
 (OMIM) Excessive weight 1 / 7739
21
 (OMIM) Focal paroxysmal discharges 1 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
23
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
24
 (HPO:0003812) Phenotypic variability 129 / 7739
25
 (OMIM) Continuous spike-wave discharges during sleep 1 / 7739
26
 (OMIM) Mental retardation, borderline to severe 1 / 7739
27
 (MedDRA:10065954) Stubbornness 5 / 7739
28
 (OMIM) Subclinical absence seizures 1 / 7739
29
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
30
 (OMIM) Autistic-like features 1 / 7739
31
 (OMIM) Fifth toe hypoplasia 1 / 7739
32
 (OMIM) Diffuse paroxysmal discharges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Giorda et al. (2009) described a syndrome characterized by borderline to severe mental retardation, speech delay, and EEG abnormalities associated with a microduplication at chromosome Xp11.23-p11.22. A total of 12 affected males and females were reported. One carrier ...