MLC1 - Gene browser

MLC1

modulator of VRAC current 1

HCNC Approved Symbol: MLC1 (HGNC:17082)
Genomic Coordinates: 22:50,059,391 - 50,085,875 (22q13.33)
Synonyms: MLC, KIAA0027, LVM, VL
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the MLC1 gene.

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

011
Patient count

Macrocephaly: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Seizures: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Delayed speech and language development: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Leukodystrophy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Abnormal muscle tone: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)