|
ATOH7
(HGNC:13907)
|
persistent hyperplastic primary vitreous
(MONDO_0019631)
|
Limited
|
|
|
ITCH
(HGNC:13890)
|
syndromic multisystem autoimmune disease due to ITCH deficiency
(MONDO_0013245)
|
Moderate
|
|
|
CACNA1A Gene
(HGNC:1388)
|
migraine, familial hemiplegic, 1
(MONDO_0020756)
|
Definitive
|
|
|
CACNA1A Gene
(HGNC:1388)
|
spinocerebellar ataxia type 6
(MONDO_0008457)
|
Definitive
|
|
|
CACNA1A Gene
(HGNC:1388)
|
benign paroxysmal torticollis of infancy
(MONDO_0019113)
|
Limited
|
|
|
CACNA1A Gene
(HGNC:1388)
|
developmental and epileptic encephalopathy, 42
(MONDO_0014917)
|
Limited
|
|
|
CACNA1A Gene
(HGNC:1388)
|
episodic ataxia type 2
(MONDO_0007163)
|
Definitive
|
|
|
FOXP2
(HGNC:13875)
|
childhood apraxia of speech
(MONDO_0011184)
|
Strong
|
|
|
CABP4
(HGNC:1386)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Limited
|
|
|
LOXL3
(HGNC:13869)
|
Stickler syndrome
(MONDO_0019354)
|
Limited
|
|
|
ADGRG6
(HGNC:13841)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CA8
(HGNC:1382)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
(MONDO_0013188)
|
Strong
|
|
|
WNT10A
(HGNC:13829)
|
odonto-onycho-dermal dysplasia
(MONDO_0009773)
|
Strong
|
|
|
SLC12A5
(HGNC:13818)
|
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
|
Moderate
|
|
|
WNT10A
(HGNC:13829)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
NEUROG3
(HGNC:13806)
|
congenital malabsorptive diarrhea 4
(MONDO_0012479)
|
Strong
|
|
|
PRX
(HGNC:13797)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Moderate
|
|
|
CA5A
(HGNC:1377)
|
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
(MONDO_0014332)
|
Strong
|
|
|
SOST
(HGNC:13771)
|
hyperostosis corticalis generalisata
(MONDO_0009395)
|
Moderate
|
|
|
SOST
(HGNC:13771)
|
craniodiaphyseal dysplasia
(MONDO_0009031)
|
Moderate
|
|