CHROMOSOME 1p32-p31 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 29
OrphanetNr:
OMIM Id: 613735
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0000076) Vesicoureteral reflux variable [HPO:skoehler] 94 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000256) Macrocephaly 298 / 7739
5
 (HPO:0003196) Short nose 264 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000331) Short chin 33 / 7739
8
 (HPO:0000160) Narrow mouth 188 / 7739
9
 (HPO:0000337) Broad forehead 116 / 7739
10
 (HPO:0000283) Broad face 12 / 7739
11
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0001250) Seizures 1245 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0000023) Inguinal hernia 181 / 7739
17
 (HPO:0000965) Cutis marmorata 46 / 7739
18
 (HPO:0010547) Muscle flaccidity 466 / 7739
19
 (HPO:0001252) Muscular hypotonia 990 / 7739
20
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0002119) Ventriculomegaly 253 / 7739
23
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
24
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
25
 (OMIM) Tethered spinal cord 5 / 7739
26
 (OMIM) Dysplastic helices 1 / 7739
27
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
28
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
29
 (HPO:0003396) Syringomyelia 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lu et al. (2007) reported 5 patients, including 2 half sibs, with a similar neurologic phenotype characterized by hypoplastic or absent corpus callosum, hydrocephalus or ventriculomegaly, and developmental delay. Four patients had a tethered spinal cord, 3 had ...