Rare Disease Library

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

Nestor-Guillermo progeria syndrome

NGPS

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Neu-Laxova syndrome

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Neuhauser anomaly

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

Neural tube closure defect

Neural tube defect

Neuralgic amyotrophy

Acute brachial plexus neuritis · Brachial plexus neuritis

Neurenteric cyst

Neuro-ophthalmological disease

Neuroacanthocytosis

Neurocutaneous melanocytosis

NCM · Neurocutaneous melanosis

Neurocutaneous syndrome with epilepsy

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Neurodegeneration with brain iron accumulation

NBIA

Neurodegenerative disease with chorea

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

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

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome

SLC4A10-related neurodevelopmental disorder

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

Neuroectodermal melanolysosomal disease

Elejalde neuroectodermal melanolysosomal disease

Neuroectodermal-endocrine syndrome

Oerter-Friedman-Anderson syndrome

Neuroendocrine carcinoma of pancreas

Pancreatic NEC · Pancreatic neuroendocrine carcinoma

Neuroendocrine cell hyperplasia of infancy

NEHI · NCHI

Neuroendocrine neoplasm

Neuroendocrine neoplasm of appendix

NEN of appendix · Appendiceal NEN

Neuroendocrine neoplasm of esophagus

Esophageal NEN · Esophageal neuroendocrine neoplasm

Neuroendocrine neoplasm of pancreas

Pancreatic neuroendocrine neoplasm · Pancreatic NEN

Neuroendocrine tumor of anal canal

NET of anal canal

Neuroendocrine tumor of pancreas

Well-differentiated pancreatic neuroendocrine neoplasm · Well-differentiated NEN of pancreas

Neuroendocrine tumor of stomach

Gastric NET · Gastric neuroendocrine tumor

Neuroendocrine tumor of the colon

Neuroendocrine neoplasm of the colon · NET of the colon

Neuroendocrine tumor of the rectum

NET of the rectum · Rectal NET

Neuroendocrine tumor of the small intestine

NET of the small intestine · Neuroendocrine neoplasm of the small intestine

Neuroendocrine tumor with other location

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome