Neurodevelopmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
619121C5436848MONDO:0030866
SHMT2 Causal
33015733
ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
618571C5231414MONDO:0032817
INTS1 Causal
28542170 30622326
ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
618356C5193049MONDO:0032698
NFASC Causal
16337912 19185024 27513193 28940097 30124836 31501903 31608123
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
619797C5676944MONDO:0859232
HDAC4 Causal
33537682
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
619333C5543427MONDO:0859152
GEMIN5 Causal
33963192 34569062
CTD ClinGen ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
C4748032618056MONDO:0020841
AGTPBP1 Causal — Disgenet
BRAT1 Causal — ClinGen ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
618572C5231415MONDO:0032818
INTS8 Causal
28542170
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
619244C5543228MONDO:0030999
TTC5 Causal
29302074 32439809
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1
620888MONDO:0975745
GTPBP1 Unknown
38118446
ClinVar GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
MONDO:0032790
KDM6B Causal — ClinVar GenCC
NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
620083C5774235MONDO:0859301
HNRNPH1 Causal
29938792 300986 32335897
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT MOTOR OR SPEECH DELAY
618330
CUX1 Unknown — HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
620489C5882684MONDO:0957583
SRSF1 Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
619306C5543332MONDO:0859141
EXOC2 Causal
21700618 23548203 25261932 28135719 31981491 32639540
ClinVar Disgenet GWAS catalog HPO
HUS1B Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
617755C4540327MONDO:0060596
BPTF Causal
27513193 28942966
CTD ClinVar Disgenet HPO
CACNA1C Causal — Disgenet
EIF3F Causal — Disgenet
KMT2E Causal — Disgenet
PPT1 Causal — Disgenet
RAC1 Causal — Disgenet
SCAF4 Causal — Disgenet
SETD1A Causal — Disgenet
TNRC6B Causal — Disgenet
SHH Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
618659C5231448MONDO:0032855
ZMIZ1 Causal
26163108 29225144 30639322 31785789 31833199 32368696 32399599 34918830 35432459 36360260
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
620210C5774298MONDO:0859361
NAE1 Causal
36608681
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
620073C5774231MONDO:0859297
HNRNPR Causal
31079900
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
619480C5551361MONDO:0859179
SUPT16H Causal
26834018 27519580 30670789 31823155 31924697
ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES
619264C5543268MONDO:0031011
EMC10 Causal — ClinVar Disgenet GenCC HPO
GARIN5A Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, BRAIN ANOMALIES, AND SEIZURES
621201
GTF3C3 Causal — ClinVar
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
619005C5436585MONDO:0033562
MADD Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
619103C5436821MONDO:0030852
KAT5 Causal
28213671 32822602
ClinVar Disgenet HPO Orphanet
RNASEH2C Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES
C4014343615802OMIM:615802
GPI Unknown — Disgenet
PGAP1 Unknown — CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
619922C5677004MONDO:0859258
SHQ1 Unknown
29178645 31887429 34542157 36810590 36847845
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
620747C5935590MONDO:0958323
PTRHD1 Causal — ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
619971C5774184MONDO:0859265
ATP6V0A1 Causal
33833240 34909687
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
301072
PIGA Causal — ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
618090C4748137MONDO:0060761
LNPK Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
617393C4479333MONDO:0044306OMIM:617393
NACC1 Causal
24896178 28132692 30842647 31036916 31231135
CTD ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
618741C5394027MONDO:0032894
TRAPPC4 Causal
33011761 32125366 31794024
ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA
620094C5774241MONDO:0859305
FRMD5 Causal
31785789 36206744
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
620075C5774232MONDO:0859298
TMEM147 Causal
28097321 28472652 36044892
CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY
615599C3810080OMIM:615599
TAF2 Unknown — CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
MONDO:0859085
TCEAL1 Causal
27506666 36368327
ClinVar Disgenet
NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
620113C5774251MONDO:0859312
FRA10AC1 Causal
35871492 35821753 34694367
ClinVar Disgenet GWAS catalog HPO