2q23.1 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRD1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED
Pseudo-Angelman syndrome
Del(2)(q23.1)
Monosomy 2q23.1
Number of Symptoms 74
OrphanetNr: 228402
OMIM Id: 156200
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 2
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
3
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
4
 (HPO:0002714) Downturned corners of mouth 98 / 7739
5
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
6
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
9
 (HPO:0010804) Tented upper lip vermilion Frequent [Orphanet] 47 / 7739
10
 (HPO:0000154) Wide mouth 137 / 7739
11
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
12
 (HPO:0001572) Macrodontia Occasional [Orphanet] 9 / 7739
13
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
14
 (HPO:0002007) Frontal bossing 366 / 7739
15
 (HPO:0000574) Thick eyebrow 96 / 7739
16
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 90 / 7739
17
 (HPO:0000331) Short chin 33 / 7739
18
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
19
 (HPO:0000687) Widely spaced teeth 40 / 7739
20
 (HPO:0000347) Micrognathia 426 / 7739
21
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
22
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
23
 (HPO:0000483) Astigmatism 67 / 7739
24
 (HPO:0000545) Myopia 286 / 7739
25
 (HPO:0000565) Esotropia 58 / 7739
26
 (HPO:0000505) Visual impairment 297 / 7739
27
 (HPO:0000540) Hypermetropia 99 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000378) Cupped ear 34 / 7739
30
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
31
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 58 / 7739
32
 (HPO:0002311) Incoordination 84 / 7739
33
 (HPO:0000736) Short attention span 16 / 7739
34
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
35
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
36
 (HPO:0001251) Ataxia 413 / 7739
37
 (HPO:0100716) Self-injurious behavior Frequent [Orphanet] 43 / 7739
38
 (HPO:0001249) Intellectual disability 1089 / 7739
39
 (HPO:0002591) Polyphagia Frequent [Orphanet] 25 / 7739
40
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
41
 (HPO:0000718) Aggressive behavior 109 / 7739
42
 (HPO:0002463) Language impairment 15 / 7739
43
 (HPO:0000712) Emotional lability Frequent [Orphanet] 44 / 7739
44
 (HPO:0001270) Motor delay 322 / 7739
45
 (HPO:0001786) Narrow foot 11 / 7739
46
 (HPO:0001773) Short foot 86 / 7739
47
 (HPO:0001852) Sandal gap Frequent [Orphanet] 63 / 7739
48
 (HPO:0200055) Small hand 71 / 7739
49
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
50
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
51
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
52
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
53
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
54
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
55
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
56
 (HPO:0008897) Postnatal growth retardation 113 / 7739
57
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
58
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
59
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
60
 (OMIM) Large prominent nose (older individuals) 1 / 7739
61
 (OMIM) Hypoactivity 1 / 7739
62
 (OMIM) Small ears with large lobules 1 / 7739
63
 (OMIM) Large simple ears 1 / 7739
64
 (OMIM) [DEL]Autistic features 43 / 7739
65
 (OMIM) Abnormal ear 2 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
67
 (OMIM) Sleep abnormalities 1 / 7739
68
 (OMIM) Outer ear abnormalities (deletion patients) Prominent ears 1 / 7739
69
 (OMIM) Limited social interactions 1 / 7739
70
 (OMIM) Small bulbous nose (younger individuals) 1 / 7739
71
 (OMIM) Thick everted lower lip (deletion patients) 4 / 7739
72
 (OMIM) Febrile seizures in infancy 1 / 7739
73
 (OMIM) Non-febrile seizures later 1 / 7739
74
 (OMIM) Hypotonia, infantile 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wagenstaller et al. (2007) described a boy with severe mental retardation who additionally had a sandal gap between the first and second toe, but no facial dysmorphic features. He showed retarded motor development and had febrile seizures at ...
Genotype-Phenotype Correlations OMIM In a phenotypic comparison of 14 patients with deletions of chromosome 2q23.1 limited to the MBD5 gene and 51 patients with larger deletions of this region and involving other genes, Talkowski et al. (2011) found that those with ...
Molecular genetics OMIM In the patient described by Wagenstaller et al. (2007) with severe mental retardation and seizures, the authors found a 200-kb deletion in the MBD5 gene (611472.0001). The deletion region was present in parental DNA. They authors also identified ...