|
WDR45
(HGNC:28912)
|
West syndrome
(MONDO_0018097)
|
Limited
|
|
|
CCDC120
(HGNC:28910)
|
osteopetrosis
(MONDO_0017198)
|
Limited
|
|
|
CCDC22
(HGNC:28909)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
SAMD11
(HGNC:28706)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
MAGT1
(HGNC:28880)
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
(MONDO_0010455)
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
(MONDO_0014714)
|
Strong
|
|
|
DRAM2
(HGNC:28769)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
MAGT1
(HGNC:28880)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
P4HTM
(HGNC:28858)
|
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
(MONDO_0032780)
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
autosomal dominant nonsyndromic hearing loss 1
(MONDO_0007424)
|
Moderate
|
|
|
DRAM2
(HGNC:28769)
|
cone-rod dystrophy 21
(MONDO_0014669)
|
Moderate
|
|
|
CYB5R3
(HGNC:2873)
|
methemoglobinemia due to deficiency of methemoglobin reductase
(MONDO_0009606)
|
Strong
|
|
|
CYB5R3
(HGNC:2873)
|
hereditary methemoglobinemia
(MONDO_0018963)
|
Definitive
|
|
|
AFG2B
(HGNC:28762)
|
neurodevelopmental disorder with hearing loss and spasticity
(MONDO_0859206)
|
Limited
|
|
|
COQ5
(HGNC:28722)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
DHODH
(HGNC:2867)
|
postaxial acrofacial dysostosis
(MONDO_0009903)
|
Strong
|
|
|
DHH
(HGNC:2865)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
DIS3L2
(HGNC:28648)
|
Perlman syndrome
(MONDO_0009965)
|
Strong
|
|
|
B9D2
(HGNC:28636)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
DHCR7
(HGNC:2860)
|
Smith-Lemli-Opitz syndrome
(MONDO_0010035)
|
Definitive
|
|