Table 1 UDN MOSC diagnoses and gene discoveries

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]