Rare Disease Library

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

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

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

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

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

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Macrocephaly-developmental delay syndrome

Marbach-Schaaf neurodevelopmental syndrome

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

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

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

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome