Distal monosomy 1q

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 1qter
MRD22 CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDED
Distal deletion 1q
Telomeric deletion 1q
CHROMOSOME 1qter DELETION SYNDROME, INCLUDED
Number of Symptoms 23
OrphanetNr: 36367
OMIM Id: 612337
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

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:0000219) Thin upper lip vermilion 112 / 7739
2
 (HPO:0000311) Round face 104 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000319) Smooth philtrum 72 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000286) Epicanthus 371 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0000377) Abnormality of the pinna 111 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0004322) Short stature 1232 / 7739
15
 (HPO:0001510) Growth delay 295 / 7739
16
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
17
 (HPO:0010547) Muscle flaccidity 466 / 7739
18
 (HPO:0001252) Muscular hypotonia 990 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (OMIM) Poor or absent speech 2 / 7739
21
 (HPO:0003828) Variable expressivity 130 / 7739
22
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features ...
Clinical Description OMIM Johnson et al. (1985) reported a female infant with microcephaly, delayed psychomotor development, hypotonia, failure to thrive, and dysmorphic facies associated with a deletion of chromosome 1q42-qter. A review of 14 additional cases revealed a characteristic facial appearance ...
Molecular genetics OMIM In a girl with autosomal dominant mental retardation-22, de Munnik et al. (2013) identified a de novo heterozygous truncating mutation in the ZBTB18 gene (E133X; 608433.0001). The mutation was found by exome sequencing and confirmed by Sanger sequencing. ...