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autosomal recessive intellectual developmental disorder 41
|
KPTN*
|
Kptn*
|
1 model
|
Alliance of Genome Resources
|
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
|
SLC1A4*
|
Slc1a4*
|
1 model
|
Alliance of Genome Resources
|
| | |
autosomal recessive intellectual developmental disorder
|
CRBN
|
Crbn*
|
2 models
|
Alliance of Genome Resources
|
| | |
autosomal recessive intellectual developmental disorder
|
ASCC3*
|
Ascc3
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder
|
CASP2*
|
Casp2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder
|
TPR*
|
Tpr
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder
|
WDR11*
|
Wdr11
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 1
|
PRSS12*
|
Prss12
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 12
|
ST3GAL3*
|
St3gal3
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 13
|
TRAPPC9*
|
Trappc9
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 14
|
TECR*
|
Tecr
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 18
|
MED23*
|
Med23
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 2
|
CRBN*
|
Crbn
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 27
|
LINS1*
|
Lins1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 3
|
CC2D1A*
|
Cc2d1a
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 34
|
CRADD*
|
Cradd
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 37
|
ANK3*
|
Ank3
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 38
|
HERC2*
|
Herc2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 39
|
TTI2*
|
Tti2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 40
|
TAF2*
|
Taf2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 43
|
WASHC4*
|
Washc4
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 44
|
METTL23*
|
Mettl23
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 45
|
FBXO31*
|
Fbxo31
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 46
|
NDST1*
|
Ndst1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 47
|
FMN2*
|
Fmn2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 48
|
SLC6A17*
|
Slc6a17
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 5
|
NSUN2*
|
Nsun2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 50
|
EDC3*
|
Edc3
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 51
|
HNMT*
|
Hnmt
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 52
|
LMAN2L*
|
Lman2l
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 54
|
TNIK*
|
Tnik
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 56
|
ZC3H14*
|
Zc3h14
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 57
|
MBOAT7*
|
Mboat7
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 58
|
ELP2*
|
Elp2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 59
|
IMPA1*
|
Impa1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 6
|
GRIK2*
|
Grik2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 60
|
TAF13*
|
Taf13
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 61
|
RUSC2*
|
Rusc2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 63
|
CAMK2A*
|
Camk2a
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 64
|
LINGO1*
|
Lingo1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 65
|
KDM5B*
|
Kdm5b
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 66
|
FERRY3*
|
D6Wsu163e
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 67
|
EIF3F*
|
Eif3f
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 68
|
TRMT1*
|
Trmt1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 69
|
ZBTB11*
|
Zbtb11
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 7
|
TUSC3*
|
Tusc3
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 70
|
RSRC1*
|
Rsrc1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 71
|
ALKBH8*
|
Alkbh8
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 72
|
METTL5*
|
Mettl5
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 73
|
NAA20*
|
Naa20
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 74
|
APC2*
|
Apc2
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 75
|
PIDD1*
|
Pidd1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 76
|
GRIA1*
|
Gria1
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 77
|
CEP104*
|
Cep104
|
|
Alliance of Genome Resources
|
autosomal recessive intellectual developmental disorder 82
|
NSUN6*
|
Nsun6
|
|
Alliance of Genome Resources
|
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
|
TBCD*
|
Tbcd
|
|
Alliance of Genome Resources
|
glycosylphosphatidylinositol biosynthesis defect 16
|
PIGC*
|
Pigc
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 1
|
PIGV*
|
Pigv
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 2
|
PIGO*
|
Pigo
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 3
|
PGAP2*
|
Pgap2
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 4
|
PGAP3*
|
Pgap3
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 5
|
PIGW*
|
Pigw
|
|
Alliance of Genome Resources
|
hyperphosphatasia with impaired intellectual development syndrome 6
|
PIGY*
|
Pigyl
|
|
Alliance of Genome Resources
|
infantile hypotonia with psychomotor retardation and characteristic facies-3
|
TBCK*
|
Tbck
|
|
Alliance of Genome Resources
|
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
|
PUS7*
|
Pus7
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
|
ADAT3*
|
Adat3
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
|
GEMIN5*
|
Gemin5
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with language delay and seizures
|
TIAM1*
|
Tiam1
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
|
GEMIN4*
|
Gemin4
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
|
TRAPPC6B*
|
Trappc6b
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
|
INTS11*
|
Ints11
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with poor growth and behavioral abnormalities
|
ATP9A*
|
Atp9a
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
|
PSMC1*
|
Psmc1
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with spasticity and poor growth
|
UFC1*
|
Ufc1
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with spastic paraplegia and microcephaly
|
GPT2*
|
Gpt2
|
|
Alliance of Genome Resources
|
Rafiq syndrome
|
MAN1B1*
|
Man1b1
|
|
Alliance of Genome Resources
|