Primary triglyceride deposit cardiomyovasculopathy

Autosomal recessive

Adult

Pseudohypoaldosteronism type 2B

Autosomal dominant

Pseudohypoaldosteronism type 2C

Autosomal dominant

Pseudohypoaldosteronism type 2D

Autosomal dominant, Autosomal recessive

Pseudohypoaldosteronism type 2E

Autosomal dominant

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked recessive

Childhood, Infancy

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant

Childhood

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive

Infancy, Neonatal

Rare mitochondrial non-syndromic sensorineural deafness

Mitochondrial inheritance

Childhood, Infancy

Renal tubular dysgenesis due to twin-twin transfusion

Not applicable

Renal tubular dysgenesis of genetic origin

Autosomal recessive

Rhizomelic chondrodysplasia punctata type 1

Autosomal recessive

Rhizomelic chondrodysplasia punctata type 2

Autosomal recessive

Rhizomelic chondrodysplasia punctata type 3

Autosomal recessive

Rhizomelic chondrodysplasia punctata type 5

Autosomal recessive

Infancy, Neonatal

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Not applicable

Antenatal, Neonatal

Rubinstein-Taybi syndrome due to CREBBP mutations

Autosomal dominant

Antenatal, Neonatal

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Autosomal dominant

Neonatal

SATB2-associated syndrome due to a chromosomal rearrangement

Not applicable, Unknown

Infancy, Neonatal

SATB2-associated syndrome due to a pathogenic variant

Autosomal dominant

Antenatal, Infancy, Neonatal

SIN3-related intellectual disability syndrome due to a point mutation

Autosomal dominant

Antenatal, Infancy, Neonatal

Sanfilippo syndrome type A

Autosomal recessive

Sanfilippo syndrome type B

Autosomal recessive

Infancy, Neonatal

Sanfilippo syndrome type C

Autosomal recessive

Childhood