MCPH1 - Gene browser

MCPH1

microcephalin 1

HCNC Approved Symbol: MCPH1 (HGNC:6954)
Genomic Coordinates: 8:6,406,627 - 6,648,508 (8p23.1)
Synonyms: FLJ12847, BRIT1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the MCPH1 gene.

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

06
Patient count

Microcephaly: 5 (83.3%)
Patient Count: 5 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (83.3%)
Psychomotor retardation: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Short stature: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Facial dysmorphism: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Global developmental delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)