Rare Disease Library

Lethal arteriopathy syndrome due to fibulin-4 deficiency

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Other immunodeficiency syndromes due to defects in innate immunity

Pituitary deficiency due to empty sella turcica syndrome

Hypopituitarism due to empty sella turcica syndrome

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Radial deficiency-tibial hypoplasia syndrome

Rh deficiency syndrome

Rh-null syndrome

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 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

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

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

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2