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Table 1 UDN MOSC diagnoses and gene discoveries

From: Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Disease gene Disease phenotype OMIM# Publication
EBF3 Hypotonia, ataxia, and delayed development syndrome #617330 [21]
NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination #617393 [22]
CACNA1A Infantile developmental delay, ataxia N/A [23]
ATP5F1D Mitochondrial complex V (ATP synthase) deficiency #618120 [24]
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction #618223 [25]
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures #618088 [26]
NR5A1 46, XX sex reversal #617480 [11]
COG4 Saul-Wilson Syndrome #618150 [27]
TONSL Spondyloepimetaphyseal dysplasia, sponastrime type #271510 [28]
WDR37 Neurooculocardio-genitourinary syndrome #618652 [29]
ACOX1 Schwann cell and axonal loss #618960 [30]
TOMM70* Hypotonia, hyperreflexia, ataxia, dystonia, and white matter abnormalities N/A [31]
CDK19* Epileptic encephalopathy #618916 [32]
YPEL3 Cerebral hypomyelination, abnormal peripheral nerve conduction, hypotonia, areflexia, and hypertrophic peripheral nerves N/A [33]
BICRA Neurodevelopmental disorder with intellectual disability, autism, and dysmorphic facial features N/A [34]
COPB2 Osteoporosis, fractures, and developmental delay N/A [35]
RNF2 Intellectual disability, seizures, and dysmorphic features N/A [36]
  1. Additional genes (manuscripts submitted or in preparation) include DROSHA, GDF11, MRTFB*, RAB5B*, SEC24C*, TMEM208*, and TNPO2*
  2. *Cases submitted during Phase II of the UDN