Disease Term Disease ID Gene Symbol Classification References Source
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY MORC2 Causal ClinVar Disgenet GWAS catalog HPO
NKAP Unknown Disgenet
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES SPTBN1 Causal ClinGen ClinVar Disgenet HPO
ARFGEF1 Unknown Disgenet
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ARFGEF1 Causal ClinVar GWAS catalog HPO