8p23.1 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Del(8)(p23.1)
Monosomy 8p23.1
Number of Symptoms 35
OrphanetNr: 251071
OMIM Id:
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 short arm of chromosome 8
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
(HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
4
(HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
5
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
6
(HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
7
(HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
8
(HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
9
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
10
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
11
(HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
12
(HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
13
(HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
14
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
15
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
16
(HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
17
(HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
18
(HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
19
(HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
20
(HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
21
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
22
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
23
(HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
24
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
25
(HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
26
(HPO:0006695) Atrioventricular canal defect Frequent [Orphanet] 27 / 7739
27
(HPO:0004383) Hypoplastic left heart Occasional [Orphanet] 29 / 7739
28
(HPO:0001669) Transposition of the great arteries Occasional [Orphanet] 36 / 7739
29
(HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
30
(HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
31
(HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
32
(HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
33
(HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
34
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
35
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: