Case Studies

Rare Disease Day Case 2

Patient Clinical Information:

The proband is a 44-year-old male with failure to thrive, fine and gross motor delay, speech delay, learning disability, nail dysplasia, hearing loss, chronic diarrhea, headaches/migraines, and muscle weakness.

Rare Disease Day Case 1

Patient Clinical Information:

The proband is a 16-year-old male with increased muscle tone, flexion contractures, kyphosis of the thoracic region, muscle weakness, and dysphonia (difficulty speaking due to physical limitation of mouth).

Decoding Neurogenetic Answers- Case Study #4

Patient Clinical Information: The patient is a 13 year-old female reported to have tuberous sclerosis and seizures, slowly progressive loss of milestones over the last year, increased agitation and fevers, and decreased oral intake.

Decoding Neurogenetic Answers- Case #3

Patient Clinical Information: The proband is a 6 year-old female with a primary clinical phenotype of intellectual disability. Additionally, it was noted that the proband has proximal and distal weakness, muscle atrophy, and severe hypotonia.

Decoding Neurogenetic Answers- Case Study #2

Patient Clinical Information: The proband is a 6-year-old female with developmental delays including speech and motor delays, subtle dysmorphic features including close set eyes, low set ears and wide space between toes, decreased IQ and staring episodes concerning for seizu

Decoding Neurogenetic Answers- Case Study #1

Patient Clinical Information: The proband is an 18-month-old female presenting with developmental delays and multiple dysmorphic features. Previous testing identified two known pathogenic variants linked to acyl CoA dehydrogenase deficiency.