5q14.3 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRD20
Monosomy 5q14.3
Del(5)(q14.3)
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, INCLUDED
Number of Symptoms 47
OrphanetNr: 228384
OMIM Id: 613443
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 5
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
2
 (HPO:0000331) Short chin 33 / 7739
3
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
4
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
5
 (HPO:0000194) Open mouth Occasional [Orphanet] 70 / 7739
6
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
7
 (HPO:0005280) Depressed nasal bridge 381 / 7739
8
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
9
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
10
 (HPO:0002714) Downturned corners of mouth 98 / 7739
11
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
12
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
13
 (HPO:0000316) Hypertelorism 644 / 7739
14
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
15
 (HPO:0000369) Low-set ears 372 / 7739
16
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
17
 (HPO:0000717) Autism Very frequent [Orphanet] 108 / 7739
18
 (HPO:0200134) Epileptic encephalopathy rare [HPO:skoehler] 42 / 7739
19
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
20
 (HPO:0002540) Inability to walk 19 / 7739
21
 (HPO:0000817) Poor eye contact 26 / 7739
22
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
23
 (HPO:0001270) Motor delay 322 / 7739
24
 (HPO:0000733) Stereotypy Frequent [Orphanet] 58 / 7739
25
 (HPO:0010864) Intellectual disability, severe 120 / 7739
26
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
27
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
28
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
29
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
30
 (HPO:0001324) Muscle weakness 859 / 7739
31
 (HPO:0010547) Muscle flaccidity 466 / 7739
32
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
 (OMIM) Lack of speech development 20 / 7739
34
 (OMIM) Dysmorphic ears 4 / 7739
35
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
36
 (HPO:0002518) Abnormality of the periventricular white matter rare [HPO:skoehler] 24 / 7739
37
 (OMIM) Stereotypic, repetitive movements 1 / 7739
38
 (OMIM) [DEL]Autistic features 43 / 7739
39
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
40
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
41
 (OMIM) Cupid bow 2 / 7739
42
 (OMIM) Pronounced eyebrows 1 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
44
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
45
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
46
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
47
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sobreira et al. (2009) reported an 11-year-old boy with moderate intellectual disability, attention deficit-hyperactivity disorder, bilateral iris coloboma, hearing loss, dental anomaly, and dysmorphic facial features associated with a 7.4-Mb deletion on chromosome 5q14.3-q21.1 (see CYTOGENETICS below). Additional ...
Molecular genetics OMIM In a child with mental retardation, delayed motor development, poor eye contact, absent speech, stereotypic movements, seizures, and brain MRI abnormalities, Le Meur et al. (2010) identified a de novo heterozygous mutation in the MEF2C gene (S228X; 600662.0001). ...