| | | Single nucleotide variant (nonsense +1 more) | Autism +10 more | |
| | | Single nucleotide variant (missense variant) | Failure to thrive +1 more | |
| | | Single nucleotide variant (missense variant) | Seizure +4 more | |
| | | Single nucleotide variant (missense variant) | Seizure +4 more | |
| | TPTEP2-CSNK1E, CSNK1E (R178C) | Single nucleotide variant (missense variant) | Intellectual disability, moderate +11 more | |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability, moderate +3 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, moderate +3 more | |
| | | Single nucleotide variant (missense variant) | Seizure +8 more | |
| | | Single nucleotide variant (missense variant) | Seizure +8 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | |
| | | Deletion (intron variant +1 more) | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 13 | |
| | | Single nucleotide variant (missense variant) | Hand tremor +4 more | |
| | | Copy number loss | Hypotonia | |
| | CSNK2A1, LOC121852996 +17 more | Copy number loss | Delayed speech and language development +4 more | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia | |
| | MTCL3, SOGA3-KIAA0408 (G778R) | Single nucleotide variant (non-coding transcript variant +1 more) | Decreased body weight +6 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +3 more | |
| | | Single nucleotide variant (nonsense) | Hypotonia | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 109 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome | |
| | | Deletion (frameshift variant) | Convulsive status epilepticus +5 more | |
| | | Single nucleotide variant (missense variant) | SP9-associated disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Hypotonia | |
| | | Single nucleotide variant (nonsense +1 more) | Hypotonia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hypotonia | |
| | | Single nucleotide variant (missense variant +1 more) | Hypotonia | |
| | | Single nucleotide variant (intron variant) | Absent speech +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +12 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | Hypotonia +2 more | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 16, primary, autosomal recessive +3 more | |
| | | Deletion (frameshift variant) | Atypical behavior +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Dysmetria +5 more | |
| | AP3B2, CPEB1-AS1 (K262T +1 more) | Single nucleotide variant (missense variant) | Autism +11 more | |
| | | Microsatellite (frameshift variant) | Pectus excavatum +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypotonia +2 more | |
| | | Single nucleotide variant (nonsense) | Hypotonia | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | |
| | | Single nucleotide variant (nonsense) | Periventricular nodular heterotopia 9 | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +2 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental abnormality | |
| | LOC126862402, KARS1 (L452fs +2 more) | Deletion (frameshift variant) | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +12 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cyanosis +6 more | |
| | | Single nucleotide variant (missense variant) | Cyanosis +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | Polydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Generalized hypotonia +9 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy +1 more | |
| | | Copy number gain | Hypotonia +7 more | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | Hypotonia +2 more | |
| | | Copy number loss | Primary dilated cardiomyopathy +2 more | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Single nucleotide variant (splice donor variant) | RYR1-Related Disorders +5 more | |
| | FKBP14, FKBP14-AS1 (I119M) | Single nucleotide variant (missense variant +1 more) | Hypotonia +3 more | |
| | | Deletion (frameshift variant +1 more) | Hypotonia +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Hypotonia +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +6 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria +3 more | |
| | | Single nucleotide variant | Microcephaly +10 more | |
| | | Single nucleotide variant | Microcephaly +10 more | |
| | | Single nucleotide variant | Developmental delay +5 more | |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Complex | Setting-sun eye phenomenon +16 more | |
| | | Translocation | Brisk reflexes +29 more | |
| | | Translocation | Hypotonia +11 more | |
| | | Translocation | Hypotonia +6 more | |
| | | Complex | Clubfoot +9 more | |
| | | Translocation | Intellectual disability, mild +2 more | |
| | | Translocation | Large for gestational age +9 more | |
| | | Translocation | Dolichocephaly +11 more | |
| | | Translocation | Hypotonia +10 more | |
| | | Translocation | Lumbar hypertrichosis +12 more | |
| | | Translocation | Dysarthria +2 more | |
| | | Translocation | Abnormal facial shape +3 more | |
| | | Translocation | Choreoathetosis +3 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Translocation | Inversion of nipple +13 more | |
| | | Translocation | Athetosis +14 more | |
| | | Translocation | Clinodactyly of the 5th finger +14 more | |
| | | Translocation | Receptive language delay +7 more | |
| | | Inversion | Autistic behavior +3 more | |
| | | Inversion | Tall stature +3 more | |
| | | Translocation | Isolated Pierre-Robin syndrome +1 more | |
| | | Translocation | Growth delay +3 more | |
| | | Translocation | Delayed speech and language development +3 more | |