Rare Disease Library

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Leydig cell hypoplasia due to LHB deficiency

46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency

Porphyria due to ALA dehydratase deficiency

ALAD porphyria · Porphyria due to ALAD deficiency

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome