Diagnosis: Hereditary Angioedema (HAE)

Diagnosis: Pitt Hopkins Syndrome

Diagnosis: Angelman Syndrome

Diagnosis: Pyruvate Dehydrogenase Complex Deficiency

Diagnosis: Gaucher Disease

Diagnosis: West Syndrome

Diagnosis: Pompe Disease

Diagnosis: Congenital Hypomyelination Neuropathy

Diagnosis: Unbalanced Chromosome Translocation

Diagnosis: SMA Type 1

Diagnosis: Antley Bixler Syndrome

Diagnosis: Pachygyria

Diagnosis: Quadriplegic Cerebral Palsy

Diagnosis: Unknown

Diagnosis: Schizenccephaly Pachygyria

Diagnosis: Unknown

Diagnosis: Lissencephaly

Diagnosis: Rare Chromosomal Anomalies

Diagnosis : Unknown

Diagnosis: Unknown

Diagnosis: SMA Type 1

Diagnosis: SMA Type 2

Diagnosis: Pompe Disease

Diagnosis: Gaucher Disease

Diagnosis: Beta Thalassemia Major

Diagnosis: Trisomy 18

Diagnosis: Methylmalonic Acidemia

Diagnosis: Achondroplasia

Diagnosis: Rubinstein-Taybi Syndrome