Rare Disease Library

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

Cockayne syndrome type 2

Cockayne syndrome type II

Crigler-Najjar syndrome type 2

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

FG syndrome type 1

Opitz-Kaveggia syndrome

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

Griscelli syndrome type 2

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

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Jansen-de Vries syndrome

JDVS · Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome

Koolen-De Vries syndrome

KdVS

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 1 syndrome · Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 2

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Stickler syndrome type 2

Timothy syndrome type 2

TS2 · LQT8 type 2

Usher syndrome type 2

USH2