Neurodevelopmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
617864C4693391MONDO:0060641
GRIA4 Causal
29220673
ClinGen ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
618443C5193102
MAPK8IP3 Unknown — Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES, NEDBA
MONDO:0032755
MAPK8IP3 Unknown
28784610 29022597 30612693 30945334
CTD ClinGen ClinVar
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
619725C5676908MONDO:0859225
KCNN2 Causal
11442353 28240725 32212350 33242881
CTD ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
620242C5830273MONDO:0859377
ATP9A Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
619880C5676990MONDO:0859252
PCDHGC4 Causal
34244665
CTD ClinVar Disgenet HPO
PCDHGA1 Unknown — Disgenet
PCDHGA10 Unknown — Disgenet
PCDHGA11 Unknown — Disgenet
PCDHGA12 Unknown — Disgenet
PCDHGA2 Unknown — Disgenet
PCDHGA3 Unknown — Disgenet
PCDHGA4 Unknown — Disgenet
PCDHGA5 Unknown — Disgenet
PCDHGA6 Unknown — Disgenet
PCDHGA7 Unknown — Disgenet
PCDHGA8 Unknown — Disgenet
PCDHGA9 Unknown — Disgenet
PCDHGB1 Unknown — Disgenet
PCDHGB2 Unknown — Disgenet
PCDHGB3 Unknown — Disgenet
PCDHGB4 Unknown — Disgenet
PCDHGB5 Unknown — Disgenet
PCDHGB6 Unknown — Disgenet
PCDHGB7 Unknown — Disgenet
PCDHGC3 Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES
621067MONDO:0976130
SEL1L Unknown — ClinVar HPO
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
620194C5774288MONDO:0859350
ZNF668 Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES
MONDO:0976265
SPOUT1 Causal — ClinVar
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SPASTIC TETRAPLEGIA, AND HEARING LOSS
MONDO:0859296
PSMC1 Causal — ClinVar GenCC
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
617903C4693546MONDO:0060659
GABBR2 Causal
25262651 26740508 27541642 28135719 28191890 28856709 28867141 29346770 30174453 31785789 31957018 34800434 35599849 35616356 35872528
ClinVar Disgenet GWAS catalog HPO
NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES
MONDO:0976285
NAV3 Unknown — ClinVar
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
617527MONDO:0060502
PLAA Causal
28007986 28413018 30577886 31322726
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
616486C4225310OMIM:616486
MFSD2A Unknown — CTD Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
620785C5935606MONDO:0968976
ACBD6 Causal
21937992 26748517 36457943 37951597
ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES
618383
ZBTB11 Unknown — HPO
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES
621102MONDO:0976233
EEFSEC Causal — ClinVar GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
C5436628MONDO:0033613619026OMIM:619026
GAD1 Causal
15571623 28454995
ClinVar Disgenet
HPDL Causal
32707086 33188300 33970200
CTD ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
618088C4748127MONDO:0060759
IRF2BPL Causal — ClinVar Disgenet GenCC HPO
NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES
MONDO:0032943
SPOP Causal
32109420
ClinGen ClinVar Disgenet
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
619517C5561979MONDO:0859188
CLCN3 Causal — ClinVar Disgenet GenCC HPO
WDR74 Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
619072C5436732MONDO:0033658
EXOC7 Causal
32103185 4057982
ClinVar Disgenet GWAS catalog HPO
ZACN Unknown — Disgenet
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
619323C5543395MONDO:0859148
TBC1D2B Causal
25363768 27694994 32623794 36029130
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
618497C5193128MONDO:0032784
CACNA1B Causal
30982612
ClinVar Disgenet HPO
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
618480C5193119MONDO:0032775
DHPS Causal
30661771
ClinVar Disgenet GWAS catalog HPO
WDR83 Unknown — Disgenet
WDR83OS Unknown — Disgenet