| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Deletion (splice donor variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (splice donor variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Deletion (inframe_indel +1 more) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | ABCA2, LOC126860796 (Q2038R +2 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | ABCA2, LOC126860796 (Y2012H +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Indel (frameshift variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |