14q22q23 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: 14q22-q23 microdeletion syndrome
Monosomy 14q22-q23
Monosomy 14q22q23
Del(14)(q22q23)
Number of Symptoms 33
OrphanetNr: 264200
OMIM Id:
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

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
Partial deletion of the long arm of chromosome 14
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
2
(HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
(HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
(HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
5
(HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
6
(HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
7
(HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
8
(HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
9
(HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
10
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
11
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
12
(HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
13
(HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
14
(HPO:0000873) Diabetes insipidus Frequent [Orphanet] 34 / 7739
15
(HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
16
(HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
17
(HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
18
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
19
(HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
20
(HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
21
(HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
22
(HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Occasional [Orphanet] 69 / 7739
23
(HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
24
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
25
(HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
26
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
28
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
29
(HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
30
(HPO:0040075) Hypopituitarism Frequent [Orphanet] 32 / 7739
31
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
32
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
33
(HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: