|
SEPSECS
(HGNC:30605)
|
pontocerebellar hypoplasia type 2
(MONDO_0016759)
|
Moderate
|
|
|
PARS2
(HGNC:30563)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
TXNL4A
(HGNC:30551)
|
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
(MONDO_0012064)
|
Strong
|
|
|
DTNA
(HGNC:3057)
|
Meniere disease
(MONDO_0007972)
|
Limited
|
|
|
DNAAF1
(HGNC:30539)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
MARCHF6
(HGNC:30550)
|
benign adult familial myoclonic epilepsy
(MONDO_0019448)
|
Disputed
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta type 3
(MONDO_0007442)
|
Strong
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta type 2
(MONDO_0007441)
|
Strong
|
|
|
DSP
(HGNC:3052)
|
striate palmoplantar keratoderma
(MONDO_0018865)
|
Moderate
|
|
|
DSPP
(HGNC:3054)
|
dentin dysplasia type II
(MONDO_0007437)
|
Strong
|
|
|
DSP
(HGNC:3052)
|
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
(MONDO_0011581)
|
Strong
|
|
|
DSP
(HGNC:3052)
|
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
|
Limited
|
|
|
DSP
(HGNC:3052)
|
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
(MONDO_0014355)
|
Moderate
|
|
|
DSP
(HGNC:3052)
|
lethal acantholytic epidermolysis bullosa
(MONDO_0012323)
|
Moderate
|
|
|
YIF1B
(HGNC:30511)
|
Kaya-Barakat-Masson syndrome
(MONDO_0030878)
|
Limited
|
|
|
DSP
(HGNC:3052)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
PRRT2
(HGNC:30500)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
PRRT2
(HGNC:30500)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Definitive
|
|
|
PRRT2
(HGNC:30500)
|
infantile convulsions and choreoathetosis
(MONDO_0011178)
|
Definitive
|
|
|
DSG2
(HGNC:3049)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|