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

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to RELB deficiency

CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

MED13L-related intellectual disability syndrome

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT 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

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT 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

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

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

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency