Rare Disease Library

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome · Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome

Adult acute respiratory distress syndrome

Adult ARDS

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

Pediatric acute respiratory distress syndrome

Pediatric ARDS · PARDS

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Pontocerebellar hypoplasia type 10

CLP1-related pontocerebellar hypoplasia · PCH10

Pontocerebellar hypoplasia type 11

Pontocerebellar hypoplasia due to TBC1D23 · PCH11

Pontocerebellar hypoplasia type 12

COASY-related pontocerebellar hypoplasia · PCH12

Pontocerebellar hypoplasia type 13

PCH13

Pontocerebellar hypoplasia type 14

PCH14

Pontocerebellar hypoplasia type 2

PCH2

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

Pontocerebellar hypoplasia type 8

PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation

Pontocerebellar hypoplasia type 9

PCH9

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome