|
RARS2
(HGNC:21406)
|
pontocerebellar hypoplasia type 6
(MONDO_0012683)
|
Strong
|
|
|
ABHD5
(HGNC:21396)
|
Dorfman-Chanarin disease
(MONDO_0010155)
|
Definitive
|
|
|
ANKRD11
(HGNC:21316)
|
KBG syndrome
(MONDO_0007846)
|
Definitive
|
|
|
DYM
(HGNC:21317)
|
Dyggve-Melchior-Clausen disease
(MONDO_0009130)
|
Definitive
|
|
|
FA2H
(HGNC:21197)
|
fatty acid hydroxylase-associated neurodegeneration
(MONDO_0017999)
|
Strong
|
|
|
SERAC1
(HGNC:21061)
|
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
(MONDO_0013875)
|
Definitive
|
|
|
CLN6
(HGNC:2077)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
TUBB4A
(HGNC:20774)
|
hypomyelinating leukodystrophy 6
(MONDO_0012905)
|
Definitive
|
|
|
CLN5
(HGNC:2076)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
CLN3
(HGNC:2074)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
CLN3
(HGNC:2074)
|
neuronal ceroid lipofuscinosis 3
(MONDO_0008767)
|
Definitive
|
|
|
CLDN19
(HGNC:2040)
|
renal hypomagnesemia 3
(MONDO_0009550)
|
Strong
|
|
|
L2HGDH
(HGNC:20499)
|
L-2-hydroxyglutaric aciduria
(MONDO_0009370)
|
Definitive
|
|
|
CLDN16
(HGNC:2037)
|
renal hypomagnesemia 3
(MONDO_0009550)
|
Definitive
|
|
|
SUMF1
(HGNC:20376)
|
mucosulfatidosis
(MONDO_0010088)
|
Definitive
|
|
|
SLC34A3
(HGNC:20305)
|
hereditary hypophosphatemic rickets with hypercalciuria
(MONDO_0009431)
|
Definitive
|
|
|
CLCNKB
(HGNC:2027)
|
Bartter syndrome
(MONDO_0015231)
|
Definitive
|
|
|
CLCNKB
(HGNC:2027)
|
Bartter disease type 3
(MONDO_0011822)
|
Definitive
|
|
|
CLCNKB
(HGNC:2027)
|
Gitelman syndrome
(MONDO_0009904)
|
Moderate
|
|
|
CLCN7
(HGNC:2025)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Strong
|
|