Rare Disease Library

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Bone fragility-contractures-arterial rupture-deafness syndrome · Connective tissue disorder due to LH3 deficiency

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Mild peroxisomal disorder due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Mild peroxisomal disorder due to PEX2 deficiency

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

CDKL5-deficiency disorder

CDD

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Combined immunodeficiency due to LCK deficiency

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

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Leydig cell hypoplasia due to LHB deficiency

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

Mixed connective tissue disease

MCTD · Sharp syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome

Congenital disorder of glycosylation due to PIGN deficiency · PIGN-CDG

Neurometabolic disorder due to serine deficiency

Serine deficiency