|
LRRC56
(HGNC:25430)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
TRMU
(HGNC:25481)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
TRMU
(HGNC:25481)
|
mitochondrial myopathy with reversible cytochrome C oxidase deficiency
(MONDO_0010780)
|
Moderate
|
|
|
ZWILCH
(HGNC:25468)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SASS6
(HGNC:25403)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Limited
|
|
|
OTUD5
(HGNC:25402)
|
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
(MONDO_0025351)
|
Moderate
|
|
|
ADH5
(HGNC:253)
|
AMED syndrome, digenic
(MONDO_0030894)
|
Moderate
|
|
|
FREM2
(HGNC:25396)
|
Fraser syndrome
(MONDO_0009046)
|
Strong
|
|
|
CCDC8
(HGNC:25367)
|
3-M syndrome
(MONDO_0007477)
|
Strong
|
|
|
SLC30A10
(HGNC:25355)
|
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
(MONDO_0013208)
|
Moderate
|
|
|
C3orf20
(HGNC:25320)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
CTSF
(HGNC:2531)
|
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
|
Moderate
|
|
|
CTSD
(HGNC:2529)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
CTSD
(HGNC:2529)
|
neuronal ceroid lipofuscinosis 10
(MONDO_0012414)
|
Strong
|
|
|
TLCD3B
(HGNC:25295)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|
|
ODAD4
(HGNC:25280)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
CTSB
(HGNC:2527)
|
keratolytic winter erythema
(MONDO_0007854)
|
Refuted
|
|
|
CTRC
(HGNC:2523)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Moderate
|
|
|
CCDC39
(HGNC:25244)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
SGSM3
(HGNC:25228)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|