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N-acetyl-alpha-D-glucosaminidase deficiency ( Mucopolysaccharidosis, type IIIB [2] )
N-acetyl-glucosamine 1-phosphotransferase deficiency ( Mucolipidosis II [13] )
N-acetylgalactosamine-4-sulfatase deficiency ( Mucopolysaccharidosis, type VI [4] )
N-acetylneuraminic acid storage disease ( Infantile sialic acid storage disorder [5] )
N-laurylsphingosine deacylase deficiency ( Farber lipogranulomatosis [8] )
NAGLU deficiency ( Mucopolysaccharidosis, type IIIB [2] )
NALD ( Adrenoleukodystrophy, autosomal neonatal form [2] )
NAME syndrome ( Carney complex, type 1 [16] )
NANA storage disease ( Infantile sialic acid storage disorder [5] )
NAPB ( Amyotrophy, hereditary neuralgic [1] )
NB ( Neuroblastoma [7] )
NBIA1 ( Hallervorden-Spatz disease [13] )
NBS ( Nijmegen breakage syndrome [14] )
NCIE ( Ichthyosiform erythroderma, congenital, nonbullous, 1 [2] )
NCIE1 ( Ichthyosiform erythroderma, congenital, nonbullous, 1 [2] )
NCMD ( North Carolina macular dystrophy [7] )
ND ( Norrie disease [4] )
NDI ( Diabetes insipidus, nephrogenic, X-linked [1] )
NDIC ( Nail dysplasia, isolated congenital [7] )
NDP ( Norrie disease [4] )
NEDE ( Nephropathy, progressive, with deafness [1] )
NEM1 ( Nemaline myopathy 1 [2] )
NEM3 ( Nemaline myopathy 3 [4] )
NEM6 ( Nemaline myopathy 6 [1] )
NEM7 ( Nemaline myopathy 7 [3] )
NEPPK ( Palmoplantar keratoderma, nonepidermolytic [2] )
NETH ( Netherton syndrome [18] )
NF1 ( Neurofibromatosis, type I [58] )
NF1 microdeletion syndrome ( Neurofibromatosis, type I - NF1 microdeletion syndrome [3] )
NF2 ( Neurofibromatosis, type II [7] )
NFJ syndrome ( Naegeli-Franceschetti-Jadassohn syndrome [10] )
NFJS ( Naegeli-Franceschetti-Jadassohn syndrome [10] )
NFNS ( Neurofibromatosis-Noonan syndrome [1] )
NFTC ( Tumoral calcinosis, normophosphatemic, familial [2] )
NH ( Hemochromatosis, neonatal [2] )
NHD ( Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [3] )
NHPT ( Hyperparathyroidism, neonatal severe primary [4] )
NHS ( Nance-Horan syndrome [3] )
NISCH syndrome ( Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [2] )
NKH ( Glycine encephalopathy [6] )
NLS ( Neu-Laxova syndrome [6] )
NM ( Nonaka myopathy [9] )
NOA syndrome ( Torg-Winchester syndrome [2] )
NOD ( Dentatorubral-pallidoluysian atrophy [2] )
NPC ( Niemann-Pick disease, type C [3] )
NPC1 ( Niemann-Pick disease, type C [3] )
NPHL2 ( Dent disease 1 [2] )
NPHS1 ( Nephrosis 1, congenital, Finnish type [1] )
NPS ( Nail-patella syndrome [26] )
NS ( Netherton syndrome [18] )
NS4 ( Noonan syndrome 4 [1] )
NSD ( Infantile sialic acid storage disorder [5] )
NSHPT ( Hyperparathyroidism, neonatal severe primary [4] )
NSPH ( Hyperparathyroidism, neonatal severe primary [4] )
NSRD4 ( Enlarged vestibular aqueduct [1] )
NYS1 ( Nystagmus 1, congenital, X-linked [1] )
Naegeli syndrome ( Naegeli-Franceschetti-Jadassohn syndrome [10] )
Naegeli-Franceschetti-Jadassohn syndrome [10]
Nail dysplasia, isolated congenital [7]
Nail, ectopic [4]
Nail-patella syndrome [26]
Nail-patella syndrome - Imaging [9]
Naito-Oyanagi disease ( Dentatorubral-pallidoluysian atrophy [2] )
Nance deafness ( Deafness, X-linked 2 [5] )
Nance-Horan syndrome [3]
Nanocephalic dwarfism ( Seckel syndrome [9] )
Nasal agenesis ( Arhinia [2] )
Nasal dermoid cyst [4]
Nasal glial heterotopia ( Nasal glioma [6] )
Nasal glioma [6]
Nasoethmoidal encephalocele ( Encephalocele, nasoethmoidal [2] )
Nasoorbital encephalocele ( Encephalocele, nasoorbital [3] )
Nasopalatine duct cyst [3]
Nasopharyngeal teratoma [13]
Nasu-Hakola disease ( Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [3] )
Natal teeth ( Teeth present at birth [5] )
Naxos disease [8]
Necrotizing encephalopathy, infantile subacute, of Leigh ( Leigh syndrome [26] )
Nemaline myopathy [20]
Nemaline myopathy 1 [2]
Nemaline myopathy 3 [4]
Nemaline myopathy 6 [1]
Nemaline myopathy 7 [3]
Nemaline myopathy caused by mutation in the alpha-actin gene ( Nemaline myopathy 3 [4] )
Nemaline myopathy caused by mutation in the tropomyosin 3 gene ( Nemaline myopathy 1 [2] )
Neonatal ichthyosis-sclerosing cholangitis syndrome ( Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [2] )
Nephritis, hereditary ( Alport syndrome [14] )
Nephroblastoma ( Wilms tumor [3] )
Nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor ( Renal hamartomas, nephroblastomatosis, and fetal gigantism [1] )
Nephrolithiasis 2 ( Dent disease 1 [2] )
Nephrolithiasis, hypercalciuria, X-linked ( Dent disease 1 [2] )
Nephronophthisis [2]
Nephropathy and deafness ( Alport syndrome, X-linked [2] )
Nephropathy, Wilms tumor, and genital anomalies ( Denys-Drash syndrome [9] )
Nephropathy, progressive, with deafness [1]
Nephrosis 1, congenital, Finnish type [1]
Nephrosis, congenital ( Nephrosis 1, congenital, Finnish type [1] )
Nephrosis, nerve deafness, and hypoparathyroidism ( Barakat syndrome [1] )
Nephrotic syndrome, type 1 ( Nephrosis 1, congenital, Finnish type [1] )
Nesidioblastosis of pancreas ( Hyperinsulinemic hypoglycemia, familial, 1 [4] )
Netherton disease ( Netherton syndrome [18] )
Netherton syndrome [18]
Nettleship-Falls type ocular albinism ( Albinism, ocular, type I [7] )
Neu-Laxova syndrome [6]
Neumann tumor ( Epulis, congenital [10] )
Neuraminidase deficiency [4]
Neuritis with brachial predilection ( Amyotrophy, hereditary neuralgic [1] )
Neuroacanthocytosis ( Choreoacanthocytosis [2] )
Neuroacanthocytosis, McLeod type ( McLeod syndrome [6] )
Neuroaxonal dystrophy, infantile [1]
Neuroaxonal dystrophy, late infantile ( Neuroaxonal dystrophy, infantile [1] )
Neuroblastoma [7]
Neuroblastoma - Histology [9]
Neuroblastoma - Imaging [32]
Neuroblastoma - Prenatal diagnosis [14]
Neurodegeneration with brain iron accumulation 1 ( Hallervorden-Spatz disease [13] )
Neuroectodermal melanolysosomal disease ( Elejalde disease [5] )
Neuroferritinopathy ( Basal ganglia disease, adult-onset [8] )
Neurofibromatosis ( Neurofibromatosis, type I [58] )
Neurofibromatosis with Noonan phenotype ( Neurofibromatosis-Noonan syndrome [1] )
Neurofibromatosis, central type ( Neurofibromatosis, type II [7] )
Neurofibromatosis, familial spinal [3]
Neurofibromatosis, type I [58]
Neurofibromatosis, type I - Cardiovascular system [6]
Neurofibromatosis, type I - Digestive system [60]
Neurofibromatosis, type I - Eyes [40]
Neurofibromatosis, type I - NF1 microdeletion syndrome [3]
Neurofibromatosis, type I - Nervous system [92]
Neurofibromatosis, type I - Pheochromocytoma [8]
Neurofibromatosis, type I - Segmental neurofibromatosis [24]
Neurofibromatosis, type I - Skeletal system [26]
Neurofibromatosis, type I - Skin - Histology [13]
Neurofibromatosis, type I - Urogenital system [32]
Neurofibromatosis, type II [7]
Neurofibromatosis, type II - Imaging [20]
Neurofibromatosis-Noonan syndrome [1]
Neuroglial heterotopia [2]
Neurohypophysis, ectopic [7]
Neuromata, mucosal, with endocrine tumors ( Multiple endocrine neoplasia, type IIB [9] )
Neuronal ceroid lipofuscinosis due to cathepsin D deficiency ( Ceroid lipofuscinosis, neuronal, 10 [1] )
Neuronal ceroid lipofuscinosis, late infantile ( Ceroid lipofuscinosis, neuronal, 2 [2] )
Neuronal degeneration of childhood with liver disease, progressive ( Alpers syndrome [4] )
Neuronopathy, distal hereditary motor, type V ( Spinal muscular atrophy, distal, type V [4] )
Neuronopathy, distal hereditary motor, type VI ( Spinal muscular atrophy with respiratory distress 1 [4] )
Neuronopathy, distal hereditary motor, with pyramidal features ( Amyotrophic lateral sclerosis 4, juvenile [4] )
Neuropathy, congenital hypomyelinating [3]
Neuropathy, congenital sensory ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Neuropathy, congenital sensory, with anhidrosis ( Insensitivity to pain, congenital, with anhidrosis [9] )
Neuropathy, giant axonal ( Giant axonal neuropathy 1 [13] )
Neuropathy, hereditary motor and sensory ( Charcot-Marie-Tooth disease [6] )
Neuropathy, hereditary sensory and autonomic, type I [11]
Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [1]
Neuropathy, hereditary sensory and autonomic, type IB ( Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [1] )
Neuropathy, hereditary sensory and autonomic, type II [7]
Neuropathy, hereditary sensory and autonomic, type III [4]
Neuropathy, hereditary sensory radicular, autosomal dominant ( Neuropathy, hereditary sensory and autonomic, type I [11] )
Neuropathy, hereditary sensory radicular, autosomal recessive ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Neuropathy, hereditary sensory, type I ( Neuropathy, hereditary sensory and autonomic, type I [11] )
Neuropathy, hereditary sensory, type IB ( Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [1] )
Neuropathy, hereditary sensory, type II ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Neuropathy, hereditary, with liability to pressure palsies [6]
Neuropathy, progressive sensory, of children ( Neuropathy, hereditary sensory and autonomic, type II [7] )
Neuropathy, severe infantile axonal, with respiratory failure ( Spinal muscular atrophy with respiratory distress 1 [4] )
Neuroretinoangiomatosis ( Sturge-Weber syndrome [23] )
Neurosensory nonsyndromic recessive deafness 4 ( Enlarged vestibular aqueduct [1] )
Neurovisceral storage disease with vertical supranuclear ophthalmoplegia ( Niemann-Pick disease, type C [3] )
Neutral lipid storage disease ( Triglyceride storage disease with impaired long-chain fatty acid oxidation [7] )
Neutropenia, severe congenital [5]
Nevi flammei, familial multiple ( Nevus flammeus [17] )
Nevoid basal cell carcinoma syndrome ( Gorlin syndrome [7] )
Nevus anemicus [2]
Nevus comedonicus [4]
Nevus depigmentosus [3]
Nevus flammeus [17]
Nevus sebaceus of Jadassohn ( Schimmelpenning-Feuerstein-Mims syndrome [22] )
Newborn hemolytic disease ( Erythroblastosis fetalis [9] )
Niemann-Pick disease [3]
Niemann-Pick disease with cholesterol esterification block ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease without sphingomyelinase deficiency ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, Nova Scotian type ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, chronic neuronopathic form ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, subacute juvenile form ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, type B [20]
Niemann-Pick disease, type C [3]
Niemann-Pick disease, type C1 ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, type D ( Niemann-Pick disease, type C [3] )
Niemann-Pick disease, type E ( Niemann-Pick disease, type B [20] )
Niemann-Pick disease, type F ( Niemann-Pick disease, type B [20] )
Night blindness, congenital stationary, autosomal dominant [3]
Night blindness, congenital stationary, rhodopsin-related ( Retinitis pigmentosa 4 [2] )
Nigrospinodentatal degeneration ( Machado-Joseph disease [10] )
Niikawa-Kuroki syndrome ( Kabuki syndrome [18] )
Nijmegen breakage syndrome [14]
Nijmegen breakage syndrome - Imaging [4]
Nipples, supernumerary [14]
Noack syndrome ( Pfeiffer syndrome [14] )
Nodular heterotopia, bilateral periventricular ( Heterotopia, periventricular, X-linked dominant [6] )
Nodulosis-arthropathy-osteolysis syndrome ( Torg-Winchester syndrome [2] )
Nonaka distal myopathy ( Nonaka myopathy [9] )
Nonaka myopathy [9]
Nonbullous congenital ichthyosiform erythroderma 1 ( Ichthyosiform erythroderma, congenital, nonbullous, 1 [2] )
Noncompaction of left ventricular myocardium with congenital heart defects [1]
Nonepidermolytic palmoplantar keratoderma ( Palmoplantar keratoderma, nonepidermolytic [2] )
Noninvoluting congenital hemangioma ( Hemangioma, noninvoluting congenital [2] )
Nonne-Milroy lymphedema ( Lymphedema, hereditary, I [15] )
Nonsyndromal microcephaly, autosomal recessive, with normal intelligence ( Nijmegen breakage syndrome [14] )
Nontropical sprue ( Celiac disease [17] )
Noonan syndrome [10]
Noonan syndrome 4 [1]
Noonan-like/multiple giant cell lesion syndrome [2]
Noonan-neurofibromatosis syndrome ( Neurofibromatosis-Noonan syndrome [1] )
Norman-Roberts lissencephaly syndrome ( Lissencephaly syndrome, Norman-Roberts type [1] )
Norrie disease [4]
North Carolina macular dystrophy [7]
Norum disease ( Lecithin:cholesterol acyltransferase deficiency [3] )
Nystagmus 1, congenital, X-linked [1]
Nystagmus, congenital motor, 1 ( Nystagmus 1, congenital, X-linked [1] )
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Edited by Aldo Campana, February 8, 2010
