|
CEP290
(HGNC:29021)
|
Joubert syndrome with oculorenal defect
(MONDO_0009480)
|
Moderate
|
|
|
CEP290
(HGNC:29021)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
KDM6B
(HGNC:29012)
|
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
(MONDO_0032790)
|
Strong
|
|
|
KDM6B
(HGNC:29012)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
GRK2
(HGNC:289)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
DLG1
(HGNC:2900)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
FRMPD4
(HGNC:29007)
|
intellectual disability, X-linked 104
(MONDO_0010509)
|
Moderate
|
|
|
RUBCN
(HGNC:28991)
|
autosomal recessive spinocerebellar ataxia 15
(MONDO_0014311)
|
Limited
|
|
|
PIEZO1
(HGNC:28993)
|
lymphatic malformation 6
(MONDO_0014797)
|
Strong
|
|
|
EMC1
(HGNC:28957)
|
cerebellar atrophy, visual impairment, and psychomotor retardation;
(MONDO_0014811)
|
Strong
|
|
|
WASHC5
(HGNC:28984)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Moderate
|
|
|
WASHC5
(HGNC:28984)
|
hereditary spastic paraplegia 8
(MONDO_0011339)
|
Moderate
|
|
|
DLAT
(HGNC:2896)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
TMEM94
(HGNC:28983)
|
intellectual developmental disorder with cardiac defects and dysmorphic facies
(MONDO_0032672)
|
Moderate
|
|
|
NUP93
(HGNC:28958)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Moderate
|
|
|
IQCB1
(HGNC:28949)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
KRT71
(HGNC:28927)
|
isolated familial wooly hair disorder
(MONDO_0008686)
|
Moderate
|
|
|
IQCB1
(HGNC:28949)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Strong
|
|
|
JAZF1
(HGNC:28917)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
CCDC22
(HGNC:28909)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Moderate
|
|