Rare Disease Library

Marbach-Schaaf neurodevelopmental syndrome

Global developmental delay-hypotonia-high pain tolerance syndrome · MASNS

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

Global developmental delay-osteopenia-ectodermal defect syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

Macrocephaly-developmental delay syndrome

OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome