1q44 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 1q44
Del(1)(q44)
Number of Symptoms 31
OrphanetNr: 238769
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 long arm of chromosome 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
4
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
5
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
6
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
7
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
8
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
9
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
10
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
11
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
12
 (HPO:0005487) Prominent metopic ridge Occasional [Orphanet] 28 / 7739
13
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
14
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
15
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
16
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
17
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
18
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
19
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
22
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
23
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
24
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
25
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
26
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
27
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
28
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
29
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
30
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
31
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: