UDN

Solving Medical Mysteries
Through Team Science

Participant 045

 

Male, age 4, with developmental delay, difficulty coordinating voluntary muscle movements (ataxia), autistic behaviors, and different facial features

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Participant 044

IRF2BPL

 

Male, age 20, with developmental regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) caused by a change in the IRF2BPL gene

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Participant 043

 

Male, age 34, with multiple benign fatty tumors under the skin (adiposis dolorosa, angiolipomatosis)

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Participant 042

 

Male, age 17, with short stature, intellectual disability, heart disease, seizures, low testosterone, episodes of sporadic high and low blood pressure, hypogonadism, slow cognitive function, thrombocytopenia, kidney disease, osteoporosis, and spondyloarthritis caused by a change in the SPOP gene

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Participant 041

SMARCC2

 

Male, age 11, with intellectual disability, absent speech, and very happy disposition caused by a change in the SMARCC2 gene.

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Participant 040

 

Male, age 40, with mucopolysaccharidosis type IIIC (Sanfilippo C) caused by genetic changes in the HGSNAT gene

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Participant 039

GNAS

 

Male, age 12, with overgrowth and developmental delay caused by a change in the GNAS gene

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Participant 038

pontocerebellar hypoplasia, type 2D

 

Female, age 3 with pontocerebellar hypoplasia, type 2D caused by changes in the SEPSECS gene

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Participant 037

hypotonia, seizures

 

Male, age 4, with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay

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Participant 036

 

Male, age 4, with absent speech, low muscle tone (hypotonia), developmental delay, small head size (microcephaly), and short stature

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