Rare Disease Library

Griscelli syndrome type 2

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

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Cockayne syndrome type 2

Cockayne syndrome type II

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Feingold syndrome type 2

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

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Griscelli syndrome type 1

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

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

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

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

Stickler syndrome type 2

Timothy syndrome type 2

TS2 · LQT8 type 2

Usher syndrome type 2

USH2