Gene Summary

Name:
sodium leak channel, non-selective
Synonyms:
Vgcnl1,  A530023G15Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Nalcnem1(IMPC)Mbp HET Early adult 0.00
increased neutrophil cell number Nalcnem1(IMPC)Mbp HET Early adult 9.66×10-09
preweaning lethality, complete penetrance Nalcnem1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Nalcnem1(IMPC)Mbp HET Early adult 0.00
decreased circulating serum albumin level Nalcnem1(IMPC)Mbp HET Early adult 9.17×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Nalcn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nalcn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Decreased motor nerve conduction velocity OMIM:615419
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
EEG abnormality, Obstructive sleep apnea ORPHA:371364
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Neonatal respiratory distress, Respiratory insufficiency OMIM:616266
Sheldon-Hall Syndrome
ORPHA:1147
Distal Arthrogryposis Type 1
ORPHA:1146
Freeman-Sheldon Syndrome
ORPHA:2053

The table below shows human diseases predicted to be associated to Nalcn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... OMIM:603278
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency, Decreased motor nerve conduction velocity ORPHA:640
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Resp... OMIM:605253
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG OMIM:607745
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG OMIM:601764
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Protei... OMIM:614131
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Peripheral axonal neuropathy, Central apnea, Death in infancy, Respira... OMIM:611722
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:254210
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601098
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... ORPHA:158061
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytop... ORPHA:507
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoalbuminemia, Ascites, Jaundice OMIM:617156
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Myasthenic Syndrome, Congenital, 16
Apnea, Fatigable weakness OMIM:614198
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Acute kidney injury, Renal insufficiency, Proteinuria... ORPHA:54370
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... OMIM:608323
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Restri... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased motor nerve conduction velocity, Decreased numbe... OMIM:618184
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia OMIM:618349
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Facial palsy, Respiratory insufficiency OMIM:617239
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Hypsarrhythmia ORPHA:500545
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity OMIM:618912
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:618805
Fibronectin Glomerulopathy
Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypoalbuminemia, Microscopic hematuria ORPHA:84090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... OMIM:620010
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with secondary generalization ORPHA:1949
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... OMIM:162500
Narcolepsy 3
Narcolepsy OMIM:609039
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency, EEG abnormality OMIM:300673
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Sensory axonal neuropathy, Neonatal death, Respiratory failure OMIM:610127
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Apnea OMIM:617933
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes DECIPHER:29
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Parkinsonism With Polyneuropathy
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... OMIM:619279
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Narcolepsy 7
Narcolepsy OMIM:614250
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... OMIM:618892
Null Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... ORPHA:280234
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Decreased moto... OMIM:600882
Roussy-Levy Hereditary Areflexic Dystasia
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:180800
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Restrictive ventilatory ... ORPHA:101077
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Wolcott-Rallison Syndrome
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili... ORPHA:1667
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity ORPHA:306
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distress, Respirator... ORPHA:168486
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... OMIM:604320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hypoalbuminemia, Proximal tubulopathy, Lym... OMIM:602579
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Diffuse mesangial sclerosis, Hypoproteinemia, Rena... OMIM:256300
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Apnea OMIM:618236
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... ORPHA:292
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, E... ORPHA:79097
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity ORPHA:99939
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Facial palsy, Decreased compound muscle action potential amplitude OMIM:603511
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Narcolepsy 1
Narcolepsy OMIM:161400
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:600361
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity OMIM:615575
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity OMIM:183050
Alg6-Cdg
Decreased LDL cholesterol concentration, Jaundice, Hypoalbuminemia, Abnormality of the liver ORPHA:79320
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Apnea, Death in infancy, Abnormal autonomic nervous system physiology OMIM:614498
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Splenomegaly, Leukopenia, Macrovesicular hepatic ste... OMIM:617303
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Joubert Syndrome 33
Apnea OMIM:617767
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Liver Failure, Infantile, Transient
Hepatomegaly, 3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Hyperbilirubinemi... OMIM:613070
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity ORPHA:276435
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, C... OMIM:616828
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:618347
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:616730
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Thrombocytopenia, Elevated circulating creatinine concentration, Hypoa... OMIM:608104
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Mpi-Cdg
Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Portal hypertension ORPHA:79319
Lethal Congenital Contracture Syndrome 5
Respiratory insufficiency, Decreased nerve conduction velocity, Death in infancy OMIM:615368
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity ORPHA:352675
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity ORPHA:99014
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, Decreased nerve conduction velocity OMIM:618356
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity ORPHA:101078
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Dyspnea, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:435387
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites OMIM:226300
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity OMIM:618404
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity ORPHA:101081
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal hypertension, Ascites ORPHA:367
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity ORPHA:1188
Autosomal Dominant Spastic Paraplegia Type 17
Abnormal motor nerve conduction velocity ORPHA:100998
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Hemolytic anemia, Acu... OMIM:619487
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormality of somatosensory evoked potentials, Respiratory failure, Abnormal nerv... ORPHA:98755
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Central apnea ORPHA:71277
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells... OMIM:118301
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy, Hypsarrhythmia, EEG with burst suppression OMIM:301058
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Apnea, Respiratory insufficiency OMIM:618226
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity OMIM:606595
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity OMIM:619862
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity OMIM:302802
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Alg1-Cdg
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia ORPHA:79327
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination OMIM:249900
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... OMIM:614436
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Hurler-Scheie Syndrome
Rhinitis, Abnormal nerve conduction velocity ORPHA:93476
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin... ORPHA:255249
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circulating cer... OMIM:242150
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Hypocal... ORPHA:37042
Avian Influenza
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Elevated circulat... ORPHA:454836
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... ORPHA:99953
Wilson Disease
Hepatomegaly, Glycosuria, Proteinuria, Portal fibrosis, Jaundice, Hypouricemia, Renal tubular dys... OMIM:277900
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity ORPHA:2926
Wild Type Abeta2M Amyloidosis
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss ORPHA:85446
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Decreased number of peripheral myelinated nerve... OMIM:604563
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly OMIM:613490
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Krabbe Disease
Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Peripheral demyelination OMIM:245200
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Abnormal circulating methionine concentration, Elevated circulating cre... ORPHA:88618
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity OMIM:614932
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... ORPHA:64753
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration OMIM:618138
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili... ORPHA:529808
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice ORPHA:75234
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity ORPHA:2928
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Peritonitis, Abscess, Elevated circulating c... ORPHA:36234
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Optic disc pallor, Interictal EEG abnormality ORPHA:79264
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hyperekplexia 3
Apnea OMIM:614618
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Kcnq2-Related Epileptic Encephalopathy
Apnea, Hypsarrhythmia, EEG with burst suppression ORPHA:439218
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Hypospadias, Cirrhosis, Cholestasis, Abnormality of the pancreas, Inc... OMIM:222470
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly OMIM:618042
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Aspiration pneumonia, Peripheral axonal neuropathy,... ORPHA:35069
Leigh Syndrome With Leukodystrophy
Optic atrophy, Apnea ORPHA:255241
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... OMIM:602390
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Primary Pulmonary Hypoplasia
Apnea, Asthma, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory defect, Ne... ORPHA:2257
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Neonatal death OMIM:610015
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Respirato... OMIM:619026
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation, Abnormal autonomic nervous system physiology OMIM:617903
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:619851
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 64
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... OMIM:618534
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Developmental And Epileptic Encephalopathy 99
Multifocal epileptiform discharges, Central apnea OMIM:619606
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficiency, Neutropenia, Anemi... ORPHA:79312
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Conjuga... ORPHA:186
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy ORPHA:48431
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Al Amyloidosis
Nephrotic syndrome, Hepatomegaly, Increased circulating NT-proBNP concentration, Proteinuria, Ren... ORPHA:85443
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:603472
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C... OMIM:300853
Charcot-Marie-Tooth Disease Type 4D
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity ORPHA:99950
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Sensory ax... OMIM:618733
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... OMIM:617056
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy, Decrease... OMIM:162400
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Respiratory insuffic... OMIM:606070
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy OMIM:607684
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, EEG abnormality, Episodic tachypnea ORPHA:3095
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive... OMIM:619644
Myopathy, Congenital, Nonprogressive
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Abnormality of the liver, Hepatomegaly, Hemobilia, Hyperb... ORPHA:88673
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity OMIM:159550
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... OMIM:301078
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Apnea, Facial palsy, Hypoventilation OMIM:617143
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Intestinal lymphangiectasia, Horseshoe kidney, Ectopic kidney, Hydronep... OMIM:235510
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... OMIM:603909
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Apnea, EEG abnormality OMIM:261680
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, EEG abnormality, Aspiration pneumonia, Recurrent pneumonia, Hypovent... ORPHA:314655
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... ORPHA:848
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Decreased nerve conduction velocity, Reduced vital capacity ORPHA:329478
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Thrombocytosis, Renal cyst, Hypocholesterolemia, Hepatic fibros... OMIM:212065
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness... OMIM:606071
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Apnea OMIM:619527
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity ORPHA:3115
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Leukopenia, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged ... ORPHA:505248
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, R... ORPHA:14
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Joubert Syndrome 7
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea OMIM:611560
Immunodeficiency 32B
Splenomegaly OMIM:226990
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Abnormal autonomic nervous system physiology, Hypoxemia, Central hypoventilation, Hypercap... OMIM:209880
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... ORPHA:567546
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Hyperbilirubinemia, S... OMIM:224120
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Ascites OMIM:618183
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Multifocal Motor Neuropathy
Motor conduction block ORPHA:641
Rett Syndrome
Apnea, Intermittent hyperventilation, EEG abnormality OMIM:312750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Cirrhos... OMIM:278000
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Respiratory insufficiency due to muscle weakness, Aspiration ORPHA:600
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity OMIM:270685
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:98914
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Facial palsy OMIM:601170
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Lethal Ataxia With Deafness And Optic Atrophy
EEG with focal epileptiform discharges, Decreased motor nerve conduction velocity, Respiratory fa... ORPHA:1187
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Amyotrophic Lateral Sclerosis 4, Juvenile
Axonal degeneration, Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnorma... OMIM:602433
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1