Rare Disease Library

Fraser-like syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lethal Larsen-like syndrome

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEND syndrome

Male EBP disorder with neurological defects

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Orofaciodigital syndrome type 1

OFD1 · OFDI

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

PEHO-like syndrome

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia