Total: 18893 cases
9625(4.0%)
DECIPHER:278349
Primary amenorrhea
MyGene2:259
Hearing impairment
DECIPHER:257588
Strabismus
DECIPHER:273901
Esotropia
MyGene2:351
Vesicoureteral reflux
UDN:050
Optic atrophy
MyGene2:71
MyGene2:2154
MyGene2:160
Ptosis
DECIPHER:269533
Ataxia
MyGene2:2105
Cryptorchidism
MyGene2:2106
DECIPHER:249519
Abnormality of prenatal development or birth
MyGene2:2197
Splenomegaly
DECIPHER:258586
Inguinal hernia
MyGene2:600
Visual impairment
MyGene2:163
MyGene2:1963
Dementia
MyGene2:2140
Autism
DECIPHER:356372
Hypermetropia
UDN:069
Bruising susceptibility
DECIPHER:305118
Dystonia
DECIPHER:263361
Recurrent urinary tract infections
MyGene2:1751
Hydronephrosis
MyGene2:1381
Delayed speech and language development
DECIPHER:306170
Abnormality iris morphology
DECIPHER:307556
DECIPHER:303613
Functional abnormality of the bladder
MyGene2:492
DECIPHER:341018
Autistic behavior
DECIPHER:272251
DECIPHER:249591
Aplasia of the uterus
MyGene2:2283
Chronic otitis media
MyGene2:159
UDN:055
DECIPHER:285759
MyGene2:482
DECIPHER:327591
Intellectual disability
MyGene2:1943
Conductive hearing impairment
UDN:111
MyGene2:459
Tall stature
MyGene2:1639
Seizure
DECIPHER:351975
MyGene2:214
Aggressive behavior
MyGene2:1930
Abnormality of eye movement
MyGene2:2002
UDN:040
Depressivity
MyGene2:288
Retinal degeneration
MyGene2:426
Ambiguous genitalia
MyGene2:347
Anxiety
MyGene2:1410
MyGene2:2232
Optic nerve hypoplasia
MyGene2:1345