CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 215510
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0003220) Abnormality of chromosome stability 98 / 7739
4
(HPO:0011133) Increased sensitivity to ionizing radiation 2 / 7739
5
(HPO:0002664) Neoplasm 111 / 7739
6
(HPO:0010547) Muscle flaccidity 466 / 7739
7
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
(HPO:0001324) Muscle weakness 859 / 7739
9
(HPO:0001252) Muscular hypotonia 990 / 7739
10
(OMIM) Normal radiosensitivity of fibroblasts 1 / 7739
11
(OMIM) Excess chromatid gaps and breaks after X-irradiation of cultured lymphocytes 1 / 7739
12
(OMIM) Profound neutropenia during chemotherapy 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yates et al. (1988) studied 2 brothers with microcephaly who developed malignancies in early childhood. The first died at 15 months with 2 primary tumors: embryonal rhabdomyosarcoma of the ear and retroperitoneal ganglioneuroblastoma. The second, investigated for hypotonia ...