|
MEFV
(HGNC:6998)
|
familial Mediterranean fever
(MONDO_0018088)
|
Definitive
|
|
|
MEF2C
(HGNC:6996)
|
intellectual disability, autosomal dominant 20
(MONDO_0013266)
|
Strong
|
|
|
MECP2
(HGNC:6990)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Moderate
|
|
|
MECP2
(HGNC:6990)
|
atypical Rett syndrome
(MONDO_0017746)
|
Moderate
|
|
|
MECP2
(HGNC:6990)
|
Rett syndrome
(MONDO_0010726)
|
Definitive
|
|
|
MECP2
(HGNC:6990)
|
severe neonatal-onset encephalopathy with microcephaly
(MONDO_0010397)
|
Limited
|
|
|
MECP2
(HGNC:6990)
|
syndromic X-linked intellectual disability Lubs type
(MONDO_0010283)
|
Definitive
|
|
|
MCCC1
(HGNC:6936)
|
3-methylcrotonyl-CoA carboxylase 1 deficiency
(MONDO_0008861)
|
Strong
|
|
|
MECP2
(HGNC:6990)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
ARL6IP1
(HGNC:697)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
MAX
(HGNC:6913)
|
pheochromocytoma
(MONDO_0008233)
|
Strong
|
|
|
MC2R
(HGNC:6930)
|
glucocorticoid deficiency 1
(MONDO_0024536)
|
Definitive
|
|
|
MDM2
(HGNC:6973)
|
Li-Fraumeni syndrome
(MONDO_0018875)
|
Limited
|
|
|
MCPH1
(HGNC:6954)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
MCPH1
(HGNC:6954)
|
microcephaly 1, primary, autosomal recessive
(MONDO_0009617)
|
Strong
|
|
|
PHOX2A
(HGNC:691)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Limited
|
|
|
ARL3
(HGNC:694)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
PHOX2A
(HGNC:691)
|
fibrosis of extraocular muscles, congenital, 2
(MONDO_0011181)
|
Moderate
|
|
|
CHST6
(HGNC:6938)
|
macular corneal dystrophy
(MONDO_0009020)
|
Definitive
|
|
|
ARL3
(HGNC:694)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|