|
TBCK
(HGNC:28261)
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
(MONDO_0014823)
|
Strong
|
|
|
PHYKPL
(HGNC:28249)
|
phosphohydroxylysinuria
(MONDO_0014008)
|
Limited
|
|
|
HPDL
(HGNC:28242)
|
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
(MONDO_0033613)
|
Moderate
|
|
|
CFAP300
(HGNC:28188)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CEP19
(HGNC:28209)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
CCDC115
(HGNC:28178)
|
CCDC115-CDG
(MONDO_0014789)
|
Strong
|
|
|
TMEM107
(HGNC:28128)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
NDUFAF2
(HGNC:28086)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
GSDME
(HGNC:2810)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
NDUFAF2
(HGNC:28086)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
LYRM7
(HGNC:28072)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
WDPCP
(HGNC:28027)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
NIPAL4
(HGNC:28018)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Moderate
|
|
|
NIPAL4
(HGNC:28018)
|
lamellar ichthyosis
(MONDO_0017778)
|
Strong
|
|
|
GRHL2
(HGNC:2799)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Moderate
|
|
|
STING1
(HGNC:27962)
|
familial chilblain lupus
(MONDO_0018827)
|
Limited
|
|
|
DES
(HGNC:2770)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Moderate
|
|
|
DES
(HGNC:2770)
|
myofibrillar myopathy 1
(MONDO_0011076)
|
Definitive
|
|
|
DES
(HGNC:2770)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
DES
(HGNC:2770)
|
atrioventricular block
(MONDO_0000465)
|
Limited
|
|