Rare Disease Library

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Juberg-Marsidi syndrome

Jung syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Lateral meningocele syndrome

Lehman syndrome

Mitchell Syndrome

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome