Intellectual disability syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME
485350
CLCN4 Unknown
27550844
Orphanet
DUAL SPECIFICITY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO 21Q22.13Q22.2 MICRODELETION
C5191008
DYRK1A Unknown — Disgenet
DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME
MONDO:0013578
DYRK1A Causal
21294719 23160955 23099646 31803247 31263215 29034068 28053047 26922654 25944381 25920557 25707398 25641759
ClinVar Disgenet
DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO 21Q22.13Q22.2 MICRODELETION
268261
DYRK1A Unknown
21031080 25944381 26677511
Orphanet
DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME DUE TO A POINT MUTATION
C5679991
DYRK1A Unknown — Disgenet