Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Autosomal dominant

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Autosomal recessive

Infancy, Neonatal

Severe disseminated cytomegalovirus infection in immunocompetent patients

Not applicable

All ages

Severe early-childhood-onset retinal dystrophy

Autosomal recessive

Childhood, Infancy

Severe early-onset axonal neuropathy due to MFN2 deficiency

Autosomal recessive

Childhood

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Autosomal dominant

Childhood

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Autosomal recessive

Childhood, Infancy

Severe generalized junctional epidermolysis bullosa

Autosomal recessive

Infancy, Neonatal

Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

Autosomal recessive

Infancy

Severe hemophilia A

X-linked recessive

Infancy, Neonatal

Severe hemophilia B

X-linked recessive

Infancy, Neonatal

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal dominant, Autosomal recessive

Neonatal

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive

Infancy, Neonatal

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Autosomal recessive

Neonatal

Severe intellectual disability and progressive spastic paraplegia

Autosomal recessive

Infancy, Neonatal

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

Autosomal recessive

Neonatal

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

Autosomal recessive

Infancy, Neonatal

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Autosomal dominant

Infancy, Neonatal

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

X-linked recessive

Infancy, Neonatal

Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Autosomal recessive

Infancy, Neonatal

Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

Unknown

Childhood

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Autosomal recessive

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Autosomal recessive

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

No data available

Neonatal