|
TELO2
(HGNC:29099)
|
TELO2-related intellectual disability-neurodevelopmental disorder
(MONDO_0014848)
|
Strong
|
|
|
ANKLE2
(HGNC:29101)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
OBSL1
(HGNC:29092)
|
3M syndrome 2
(MONDO_0013039)
|
Strong
|
|
|
OBSL1
(HGNC:29092)
|
3-M syndrome
(MONDO_0007477)
|
Definitive
|
|
|
SMCHD1
(HGNC:29090)
|
arhinia, choanal atresia, and microphthalmia
(MONDO_0011323)
|
Strong
|
|
|
SMCHD1
(HGNC:29090)
|
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
|
Strong
|
|
|
CEP135
(HGNC:29086)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
IFT140
(HGNC:29077)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
IFT140
(HGNC:29077)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Moderate
|
|
|
IFT140
(HGNC:29077)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
IFT140
(HGNC:29077)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
KATNIP
(HGNC:29068)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
DSTYK
(HGNC:29043)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
DSTYK
(HGNC:29043)
|
hereditary spastic paraplegia 23
(MONDO_0010046)
|
Moderate
|
|
|
SZT2
(HGNC:29040)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
SZT2
(HGNC:29040)
|
developmental and epileptic encephalopathy, 18
(MONDO_0014201)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
CEP290
(HGNC:29021)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Leber congenital amaurosis 10
(MONDO_0012723)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Strong
|
|