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A-Z of Conditions

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N-acetyl glutamate synthase see Urea Cycle Disorders
Naevus Flammus see Vascular Birthmarks
Nager syndrome
NAGS Deficiency see Urea Cycle Disorders
Nail-Patella syndrome
Narcolepsy
NARP see Mitochondrial Cytopathies and related disorders
NBCCS see Gorlin syndrome
Necrotising Fasciitis
Nemaline Myopathy see Muscular Dystrophy and neuromuscular disorders
Neonatal Death see Stillbirths and Neonatal Deaths
Neonatal Haemochromatosis see Liver disease
Neonatal Hepatitis see Liver disease
Neonatal Hypoglycemia-Visceromegaly-Macroglossia-Microcephaly see Beckwith-Wiedemann syndrome
Nephrogenic Diabetes Insipidus see Pituitary Disorders
Nephronopthisis see Kidney disease
Nephrotic syndrome
Nesidioblastosis see Congenital Hyperinsulinism
Netherton disease see Netherton syndrome
Netherton syndrome
Neural Tube Defect see Spina Bifida
Neuroacanthocytosis disorders
Neuroacanthocytosis see Neuroacanthocytosis disorders
Neuroblastoma
Neurodevelopmental Regression in Children see Dementia in Children
Neurofibromatosis
Neuronal Ceroid Lipofuscinosis Type 1 (infantile) see Batten disease
Neuronal Ceroid Lipofuscinosis Type 2 (late infantile) see Batten disease
Neuronal Ceroid Lipofuscinosis Type 3 (juvenile) see Batten disease
Neuropathy, Ataxia and Retinitis Pigmentosa see Mitochondrial Cytopathies and related disorders
Neurovisceral Storage disease see Niemann-Pick disease
Neutral Lipid Storage disease see Ichthyosis
Neutropenia (Severe Chronic)
Nevilles disease see Niemann-Pick disease
Nevoid basal cell carcinoma syndrome see Gorlin syndrome
Niemann-Pick disease
NOMID see Chronic infantile neurologic cutaneous and articular syndrome
Non-Bullous Ichthyosiform Erythroderma see Ichthyosis
Non-Epileptic Seizures see Reflex Anoxic Seizures
Non-Hodgkin's Lymphoma see Lymphoma
Noonan syndrome
Normal Pressure Hydrocephalus
Norman-Roberts syndrome see Cortical malformations
Norrie disease
NPS see Nail-Patella syndrome
Nuclear DNA Mutations see Mitochondrial Cytopathies and related disorders
Nystagmus

 

 

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