ASPM - Gene browser

ASPM

assembly factor for spindle microtubules

HCNC Approved Symbol: ASPM (HGNC:19048)
Genomic Coordinates: 1:197,084,127 - 197,146,669 (1q31.3)
Synonyms: Calmbp1, ASP, FLJ10517, FLJ10549, MCPH5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

39Patients

In total, 39 patients were diagnosed with a variant in the ASPM gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

039
Patient count

Microcephaly: 25 (64.1%)
Patient Count: 25 (64.1%)
% of total patients presenting each phenotype is shown in parentheses.
25 (64.1%)
Congenital microcephaly: 16 (41.0%)
Patient Count: 16 (41.0%)
% of total patients presenting each phenotype is shown in parentheses.
16 (41.0%)
Intellectual disability: 11 (28.2%)
Patient Count: 11 (28.2%)
% of total patients presenting each phenotype is shown in parentheses.
11 (28.2%)
Mental retardation: 4 (10.3%)
Patient Count: 4 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.3%)
Microcephaly present at birth: 4 (10.3%)
Patient Count: 4 (10.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.3%)