Rare Disease Library

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Cataract-intellectual disability-hypogonadism syndrome

Martsolf syndrome

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

Fraser-like syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

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

Martsolf-like syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Lethal Larsen-like syndrome

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Limb-mammary syndrome

LMS

Marden-Walker syndrome

Marfan syndrome

MFS

Marshall syndrome

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome

Mosaic Legius syndrome

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

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

PEHO-like syndrome

Prader-Willi-like syndrome

PWS-like

Proteus-like syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Sagliker syndrome

Waardenburg syndrome

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Weaver-like syndrome

Wolfram-like syndrome