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Gene: Neu1 MGI:97305

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neuraminidase 1
Synonyms:
G9,  sialidase 1,  Bat-7,  Bat7,  Aglp,  Apl,  lysosomal sialidase,  Neu-1,  Map-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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.

Phenotype associated images not available

Human diseases caused by Neu1 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 predicted to be associated to Neu1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ... OMIM:603553
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Paraplegia, Hepatosplenomegaly, Pancytopenia, Hemiparesis... ORPHA:79124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H... OMIM:256300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventriculomegaly, Hepatic failure, Lymphedema, Ascites, Pancreatic lymphangiectasis, Downslanted ... OMIM:235255
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Spasticity, Broad-based gait, Short palpebral fissure, Oligosacchariduria, Seizure, Hepatosplenom... ORPHA:397709
Thymic Carcinoma
Neoplasm of the thymus, Diaphragmatic paralysis, Weight loss, Dyspnea, Palpebral edema, Mediastin... ORPHA:99868
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Generalized edema, Stage 5 chronic kidney disease, Podocy... OMIM:619155
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Spastic gait, Progressive spastic paraplegia, Urinary bladder sphincter dysfunc... ORPHA:306511
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Failure... OMIM:615895
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Slender build, Decreased mitochondrial number, Gait disturbance, Exertional d... ORPHA:352470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Myoclonu... ORPHA:2590
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ichthyosis, Splenomegaly, Gait disturbance, Ataxia, Hepatomegaly ORPHA:2274
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Ankle clonus, Loss of ambulation, Elevated circulating creatine kinase conc... OMIM:617054
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Urinary retention, Pseudobulbar paralysis, Tremor, Babinski sign,... OMIM:616586
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Seizure, Respiratory distress, Renal insufficiency, Splenomegaly, Hyperammonem... ORPHA:79312
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventriculomegaly, Hepatic failure, Downslanted palpebral fissures, Ascites, Pancreatic lymphangie... ORPHA:1655
Lymphangiectasia, Intestinal
Edema, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Generalized myoclonic seizure, Frequent falls, Gait ataxia, Myoclonus, Bilatera... OMIM:616540
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, E... OMIM:614018
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Urinary retention, Tip-toe gait, Postural tremor, Kyphoscoliosis, Babinski sign, Tetr... ORPHA:447760
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Limb ataxia, Gait ataxia, Ankle clonus, Babinski sign, Low... ORPHA:488594
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Elevated circulating creatine kinase concentratio... OMIM:615290
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Generalized edema, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Ly... ORPHA:90362
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Seizure, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticit... OMIM:611225
Neuraminidase Deficiency
Facial edema, Urinary excretion of sialylated oligosaccharides, Seizure, Ascites, Increased urina... OMIM:256550
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Seizure, Respiratory distress, Short neck, Hypertonia, Polyhydramnios, Palpebr... ORPHA:50810
Brain-Lung-Thyroid Syndrome
Webbed neck, Involuntary movements, Falls, Failure to thrive, Megacystis, Respiratory distress, I... ORPHA:209905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Failure to thrive, Seizu... OMIM:214110
Iatrogenic Botulism
Xerostomia, Urinary retention, Cerebral palsy, Diaphragmatic paralysis, Ptosis, Dyspnea ORPHA:254509
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Seizure, Elevated circulating creatine kinase concentration, Lower limb spasticity,... OMIM:617404
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Generalized myoclonic seizure, Seizure, Inability to walk, Lumbar hyperlordosis... OMIM:616756
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Hypocholesterolemia, Hypersplenism, Bilateral tonic-clonic seizure with focal onset, Myo... OMIM:610539
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Johanson-Blizzard Syndrome
Edema, Failure to thrive, Exocrine pancreatic insufficiency, Absent lacrimal punctum, Hydronephro... ORPHA:2315
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Tremor, Proteinuria, Photosensitive myoclonic seizure, Gait disturbance, Hyperlordos... ORPHA:1192
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebral edema, P... ORPHA:100057
Fatal Familial Insomnia
Urinary retention, Apnea, Myoclonus, Weight loss, Ataxia OMIM:600072
Combined Saposin Deficiency
Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Generalized cloni... OMIM:611721
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Megacystis, Seizure, Hypertonic dehydration, Polyuria, Hypernatremia OMIM:125800
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ... ORPHA:167
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Megacystis, Seizure, Hypertonic dehydration, Polyuria, Hypernatremia OMIM:304800
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Urinary retention, Progressive spastic paraparesis, Diffic... ORPHA:79093
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... OMIM:617021
Congenital Myopathy 2A, Typical, Autosomal Dominant
Slender build, Rigidity, Facial palsy, Hyperlordosis, Hypertonia, Polyhydramnios, Waddling gait, ... OMIM:161800
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlor... OMIM:303350
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Ventriculomegaly, Seizure, Myoclonus, Splenomegaly, Hepatomegaly, Ataxia, Anterior... OMIM:230650
Intellectual Developmental Disorder, Autosomal Dominant 54
Focal impaired awareness seizure, Urinary retention, Atonic seizure, Seizure, Inability to walk, ... OMIM:617799
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, ... ORPHA:71277
Sialidosis Type 2
Nephropathy, Seizure, Ascites, Splenomegaly, Tremor, Hepatomegaly, Ataxia, Dyspnea, Hydrops fetal... ORPHA:87876
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Lymphedema, Renal insufficiency, Abnormal renal glomerulus morphology, No... OMIM:137940
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Generalized edema, Intestinal lymphangiectasia OMIM:207731
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Acute Intermittent Porphyria
Urinary retention, Seizure, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen... ORPHA:79276
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Generalized-onset seizure, Myoclonus, ... OMIM:159950
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Lymphedema ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Generalized edema, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron defi... OMIM:226300
Sialidosis Type 1
Aminoaciduria, Abnormal form of the vertebral bodies, Urinary excretion of sialylated oligosaccha... ORPHA:812
Inhalational Botulism
Xerostomia, Urinary retention, Paralysis, Ptosis, Dyspnea ORPHA:254504
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondyl... OMIM:600561
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Splenomegaly, Bilateral tonic-clonic seizure, Hepatomegaly, Dystonia ORPHA:139406
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis, Babinski sign, Lower limb spasticity, Spastic gait, Dystonia, Upper limb sp... OMIM:619966
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Palpebral edema, Hyperlordosis, Elevated circulating creatine kinase... ORPHA:269
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Dermatochalasis, Unilateral renal agenesis, Reduced natural killer cell count, Ventriculomegaly, ... ORPHA:221139
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Ataxia, Urinary retenti... ORPHA:99027
Porphyria, Acute Intermittent
Urinary retention, Seizure, Respiratory paralysis, Paralysis, Reduced erythrocyte porphobilinogen... OMIM:176000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Edema, Anasarca, Generalized-on... OMIM:254900
Enterokinase Deficiency
Hypoproteinemic edema, Hypoproteinemia, Failure to thrive OMIM:226200
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Ventriculomegaly, Seizure, Downslanted palpebral fissures, Inability to wa... OMIM:617804
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyramidal si... OMIM:615924
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Seizure, Myoclonus, Short neck, Ataxia, Hepatomegaly OMIM:612015
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Oligohydramnios, Nephrolithiasis, Fetal pyelectasis OMIM:619365
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ventriculomegaly, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... OMIM:615362
Wound Botulism
Urinary retention, Cerebral palsy, Diaphragmatic paralysis, Ptosis, Dyspnea ORPHA:178475
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... ORPHA:105
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Ventriculomegaly, Seizure, Respiratory distress, Inability to wal... OMIM:617977
Hsd10 Disease
Ventriculomegaly, Elevated urinary 3-hydroxybutyric acid, Spastic paraparesis, Abnormal urinary a... ORPHA:391417
H Syndrome
Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, Azoospermia, Psoriasiform der... ORPHA:168569
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Seizure, Megacystis, Hepatic steatosis ORPHA:977
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Seizure, Myoclonus, Hypertonia, Anemia, Unsteady gait OMIM:610090
Phelan-Mcdermid Syndrome
Ventriculomegaly, Broad-based gait, Seizure, Lymphedema, Long eyelashes, Thick eyebrow, Vesicoure... OMIM:606232
Malaria
Acute kidney injury, Respiratory distress, Gait imbalance, Hyperbilirubinemia, Elevated circulati... ORPHA:673
Spinocerebellar Ataxia 17
Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dyst... OMIM:607136
Nemaline Myopathy 2
Frequent falls, Inability to walk, Slender build, Apnea, Weakness of facial musculature, Steppage... OMIM:256030
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Myoclonic seizure, Failure to thrive, Typical absence seizure, Gait atax... OMIM:620145
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Sudden episodic apnea, Involuntary movements, Neonatal seizure, L... ORPHA:3095
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Ventriculomegaly, Myoclonic seizure, Seizure, Inability to walk, E... OMIM:614254
Baraitser-Winter Cerebrofrontofacial Syndrome
Webbed neck, Highly arched eyebrow, Hydroureter, Failure to thrive, Seizure, Downslanted palpebra... ORPHA:2995
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Seizure, Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly, Seizure, Slender build, Myoclonus, Prominent supraorbital ridges, Limb tremor, ... OMIM:300699
Foodborne Botulism
Xerostomia, Urinary retention, Cerebral palsy, Paralysis, Ptosis, Diaphragmatic paralysis ORPHA:228371
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
Camurati-Engelmann Disease
Urinary retention, Abnormality of the vertebral column, Slender build, Leukopenia, Splenomegaly, ... ORPHA:1328
Omenn Syndrome
Thickened skin, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, ... OMIM:603554
Solitary Fibrous Tumor
Urinary retention, Pelvic mass, Hypophosphatemic rickets, Low back pain, Neoplasm of the liver, W... ORPHA:2126
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thr... OMIM:250620
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Apnea, Gait disturbance, Ptosis, Hyperlordosis, Periodic paralysis OMIM:614198
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Epicanthus, Elevated circulating alanine aminotransferase concen... OMIM:614866
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Macrocephaly-Developmental Delay Syndrome
Seizure, Downslanted palpebral fissures, Hepatosplenomegaly, Narrow palpebral fissure, Palpebral ... ORPHA:397612
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Agel Amyloidosis
Xerostomia, Bilateral ptosis, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Abno... ORPHA:85448
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Polyhydramnios, Epicanthus ORPHA:1450
Peho-Like Syndrome
Ventriculomegaly, Myoclonus, Epicanthus, Bilateral tonic-clonic seizure, Status epilepticus, Edema OMIM:617507
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Progressive spastic paraplegia, Seizure, Myoclonus, Paroxysmal dy... ORPHA:466722
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Vacuolated ly... OMIM:256731
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea, Abnormal cir... ORPHA:369840
Pontocerebellar Hypoplasia Type 4
Seizure, Myoclonus, Central apnea, Hypertonia, Polyhydramnios ORPHA:166063
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Limb hypertonia, Hypertonia, Palpebral edem... ORPHA:466688
Ménétrier Disease
Hypoalbuminemia, Peripheral edema, Weight loss, Hypochromic microcytic anemia, Hypoproteinemia ORPHA:2494
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Seizure, Respiratory distres... ORPHA:26792
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hem... ORPHA:289916
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... ORPHA:846
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Bilateral tonic-clonic seizure, Hypertonia, Palpebral edema, Hypospadias ORPHA:79350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Slender build, Elevated circulating creatine kinase concentration, Gait disturbance, Exert... OMIM:615156
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu... ORPHA:561854
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Sc... OMIM:300718
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Seizure, Apnea, Infantile spasms, Tremor... OMIM:608093
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Waddling gait, Elevated circulating creatine kinase concentration, Unsteady... ORPHA:280333
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic syst... ORPHA:69735
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Macs Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Ichthyosis, Decreased body weight, Epicanthus, Pa... OMIM:613075
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Congenital Analbuminemia
Facial edema, Hypoalbuminemia, Obesity, Oligohydramnios, Hyperlipidemia, Increased alpha-globulin... ORPHA:86816
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Tip-toe gait, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordos... ORPHA:62
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Seizure, Respiratory distress, Pericardial effusion, Large for gestational ag... ORPHA:363705
2p15-16.1 microdeletion syndrome
Hydronephrosis, Telecanthus, Ptosis, Downslanted palpebral fissures DECIPHER:70
Botulism
Diaphragmatic paralysis, Xerostomia, Urinary retention, Cerebral palsy ORPHA:1267
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Focal hemiclo... OMIM:616981
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Palpebral edema, Scoliosis... ORPHA:261144
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Spasticity, Seizure, Downslanted palpebral fissu... OMIM:616817
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Abnormal lower motor neuron morphology, Hyperlordosis, Scoliosis, Waddling gait OMIM:611067
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure... OMIM:616230
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:162350
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Free Sialic Acid Storage Disease
Spasticity, Seizure, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Abnormal p... ORPHA:834
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Thoracolumbar scoliosis... OMIM:255600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Broad-based gait, Tip-toe gait, Difficulty walking, Lumbar hyperlordosis, Gait imbalance, Elevate... ORPHA:435387
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... OMIM:615400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Hemat... OMIM:619475
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis, Tremor, Ataxia OMIM:619099
X-Linked Intellectual Disability, Shashi Type
Seizure, Obesity, Prominent supraorbital ridges, Blepharophimosis, Palpebral edema ORPHA:85286
20Q11.2 Microduplication Syndrome
Periorbital edema, Seizure, Downslanted palpebral fissures, Underdeveloped supraorbital ridges, E... ORPHA:363659
Nemaline Myopathy 5C, Autosomal Dominant
Tip-toe gait, Difficulty walking, Slender build, Weakness of facial musculature, Hyperlordosis, S... OMIM:620389
Sandhoff Disease
Failure to thrive, Seizure, Splenomegaly, Ataxia, Hepatomegaly, Kyphosis ORPHA:796
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, Myoclonus, Ataxia, Polyhydramnios, Erratic myoclonus, Spastic tetraplegia OMIM:619971
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Frequent falls, Difficulty walking, Nocturnal hypoventilation, Exercise-induced myo... OMIM:607155
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Increased serum beta-hexosaminidase, Hypoplasia of the odontoid process... OMIM:252500
Adrenomyeloneuropathy
Spasticity, Spastic gait, Urinary retention, Urinary bladder sphincter dysfunction, Progressive s... ORPHA:139399
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Cogwheel rigidity, Myoclonus, Gait ata... ORPHA:225154
Spinal Cord Injury
Spasticity, Urinary retention, Urinary bladder sphincter dysfunction, Weakness due to upper motor... ORPHA:90058
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Generalized myoclonic seizure, Infantile spasms, Focal-onset seizure, Dystonia,... OMIM:308350
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Juvenile Huntington Disease
Ventriculomegaly, Broad-based gait, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, ... ORPHA:248111
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Pleural effusion... ORPHA:29073
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Fasciculations, Urinary bladd... ORPHA:52430
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... OMIM:608105
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Dengue Fever
Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Nizon-Isidor Syndrome
Thoracolumbar kyphosis, Sparse eyebrow, Seizure, Downslanted palpebral fissures, Upper eyelid ede... OMIM:618872
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis... OMIM:204200
Bohring-Opitz Syndrome
Ventriculomegaly, Cholelithiasis, Annular pancreas, Urinary retention, Seizure, Inability to walk... ORPHA:97297
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus, Dystonia, Spastic tetra... OMIM:618285
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Ataxia, Eyeli... OMIM:616421
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Seizure, Feb... OMIM:619847
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Clonus, Hepat... OMIM:259720
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Ptosis,... OMIM:312170
Thyrocerebrorenal Syndrome
Nephritis, Seizure, Myoclonus, Renal insufficiency, Thrombocytopenia, Nonprogressive cerebellar a... ORPHA:3327
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Weakness of facial musculature, Gait disturbance, Frequent ... OMIM:610687
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Mitochondrial Complex I Deficiency, Nuclear Type 19
Ventriculomegaly, Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait distu... OMIM:618241
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Failure to thrive, Seizure, Recurrent urinary tract infections, Microcytic anemia, ... ORPHA:99843
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Infantile Sialic Acid Storage Disease
Failure to thrive, Seizure, Ascites, Splenomegaly, Cardiomegaly, Epicanthus, Ptosis, Vacuolated l... OMIM:269920
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Seizure, Increased circulating ferritin concentration, Conjunctivitis, Splenome... OMIM:603552
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Abnormal upper motor neuron morphology, Myoclo... OMIM:221770
Epilepsy, Progressive Myoclonic, 11
Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Hydroureter, Megacystis, Oligohydramnios, Portal hypertension, Hydronephrosis OMIM:619431
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Congenital Myopathy 16
Tongue tremor, Postural tremor, Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Respiratory distress, Leukopenia, Myoclonus, Hepatic steatosis, 3-Methylglut... OMIM:616271
Spinocerebellar Ataxia 2
Spasticity, Urinary bladder sphincter dysfunction, Fasciculations, Postural tremor, Limb ataxia, ... OMIM:183090
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Seizure, Proteinuria, Thrombocytopenia, ... OMIM:189800
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Failure to thrive, Seizure, Respiratory distress, Elevated circulating cre... OMIM:614399
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Tip-toe gait, Frequent falls, Lumbar hyperlordosis, Abnormal macrophage morphol... ORPHA:353
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Ventriculomegaly, Myoclonic seizure, Apnea, Myoclonus, Upslanted palpebral fissure, Tonic seizure... OMIM:617290
Macdermot-Winter Syndrome
Hydronephrosis, Highly arched eyebrow, Ventriculomegaly, Seizure OMIM:247990
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Ventriculomegaly, Generalized non-motor (absence) seizure, Seizure... ORPHA:485350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Seizure, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Baralle-Macken Syndrome
Spasticity, Inability to walk, Obesity, Focal-onset seizure, Upslanted palpebral fissure, Acantho... OMIM:619255
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Ventriculomegaly, Proximal tubulopathy, Elevated circulating hepatic t... OMIM:614576
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Ventriculomegaly, Seizure, Apnea, Infantile spasms, Hydronephrosis, Long palpebral fissure, Scoli... OMIM:619797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Ventriculomegaly, Inability to walk, Elevated circulating creatine kinase concentration, Left ven... OMIM:613156
Hemimegalencephaly
Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Gliosis, Focal tonic seizure,... ORPHA:99802
Proteus Syndrome
Downslanted palpebral fissures, Limbal dermoid, Splenomegaly, Kyphoscoliosis, Ptosis, Hyperkerato... OMIM:176920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Hypoplastic sa... OMIM:604292
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Methylmalonic aciduria, Failure to thrive, Seizure, Respiratory distr... OMIM:250940
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure... OMIM:301020
Developmental And Epileptic Encephalopathy 23
Long eyelashes, Infantile spasms, Myoclonus, Telecanthus, Thick eyebrow, Tonic seizure, Bilateral... OMIM:615859
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Gm1 Gangliosidosis
Thickened skin, Spasticity, Hepatosplenomegaly, Bilateral tonic-clonic seizure with generalized o... ORPHA:354
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Increased serum pyruvate, Generalized myoclonic seizure OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Ventriculomegaly, Tip-toe gait, Frequent falls, Difficulty walking, Elevated circulating creatine... OMIM:606612
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Seizure, Respiratory distress, Pancytopenia... OMIM:251100
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Myoclonus, Seizure, Ataxia OMIM:600143
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Periodic hypokalemic paresis, Urinary retention, Hypomagnesemia, Obesity, T... ORPHA:79102
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia OMIM:617829
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Ck Syndrome
Seizure, Slender build, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Epicanthus,... OMIM:300831
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Seizure, Respiratory distress, Gait ataxi... OMIM:612075
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Peho Syndrome
Ventriculomegaly, Seizure, Peripheral edema, Infantile spasms, Epicanthus, Hydrocephalus, Palpebr... ORPHA:2836
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia, Polyhydramnios OMIM:225753
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Obesity, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:615993
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, Generalized myoclonic seizure OMIM:612437
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia... ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... OMIM:204300
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Failure to thrive, Seizure, Respiratory distress, Scoliosis OMIM:300934
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Campt... OMIM:606703
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Weight loss, Clonus, Poikilocytosis,... OMIM:301310
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Chorea, Elevated circulating creatine kinase concentration, Card... ORPHA:268
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Seizure, Respiratory distress, Epicanthus, Hepatomegaly, Increased serum pyruvate OMIM:614741
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Downslanted palpebral fissures, Upslanted palpebral fissure, Ptosis, Hyperlordosis, ... OMIM:615761
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements... OMIM:618497
Spastic Paraplegia 10, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Ankle clonus, Babinski s... OMIM:604187
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor OMIM:615127
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis, Seizure OMIM:300518
Gaucher Disease Type 2
Spasticity, Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Dy... ORPHA:77260
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxi... OMIM:606777
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Seizure, Elevated circulating creatine kinase concentration ORPHA:408
Visceral Myopathy 1
Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis, Polyhydramnios OMIM:155310
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Upper eyelid edema, Thick eyebrow, Ataxia OMIM:616819
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly, Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic ... OMIM:617391
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Elevated ... OMIM:612736
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Spastic gait, Hand tremor, Head tremor, Limb dysmetria, Upper limb dysmetria,... OMIM:614409
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Pulmonary edema, Epicanthus, Abnormal... OMIM:619991
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait ataxia, ... ORPHA:101150
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies... ORPHA:231222
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Spasticity, Seizure, Lymphedema, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal... ORPHA:79279
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Tremor, Hyperphenylalaninemia, Hypertonia, Transient hyperphe... OMIM:264070
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Myopathy, Distal, 1
Tip-toe gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Gait dist... OMIM:160500
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Thrombocytopen... OMIM:231000
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Small for gestational age, Choreoathetosis OMIM:617065
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:600175
13Q12.3 Microdeletion Syndrome
Upper eyelid edema, Obesity, Failure to thrive, Kyphoscoliosis ORPHA:412035
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Spastic gait, Seizure, Urinary bladder sphincter dysfunction, Tremor, Babinsk... OMIM:600363
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Gait ataxia, Myoclonus, Tremor, Upslanted palpebral fissure, Bilateral tonic-c... OMIM:619092
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, D... ORPHA:254881
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Myoclonus, Ataxia, Vacuolated lymphocytes OMIM:256730
Acute Transverse Myelitis
Spasticity, Urinary retention, Urinary bladder sphincter dysfunction, Paraplegia, Upper motor neu... ORPHA:139417
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Difficulty walking, Hyperlordosis, Waddling gait ORPHA:363454
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Abnormal eyelid morphology, Lymphadenopathy, Hepato... ORPHA:2584
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Kyphosis, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hyperlor... OMIM:128100
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal motor function, Abnormal pyrami... ORPHA:352596
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios, Myoclonus OMIM:619303
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Bila... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Generalized myoclonic seizure, Focal myoclonic seizure, Progressive spastic paraplegi... ORPHA:464282
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Failure to thrive, Myoclonus, Ptosis, Polyuria, Ataxia, Hepatomegaly, Dehyd... OMIM:560000
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Juvenile Sialidosis Type 2
Spasticity, Visceromegaly, Abnormal form of the vertebral bodies, Seizure, Hepatosplenomegaly, My... ORPHA:93399
Huntington Disease
Involuntary movements, Decreased body mass index, Abnormal circulating cholesterol concentration,... ORPHA:399
Triosephosphate Isomerase Deficiency
Normocytic anemia, Spasticity, Cholelithiasis, Kyphosis, Failure to thrive, Respiratory distress,... OMIM:615512
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness,... ORPHA:79263
Rigid Spine Syndrome
Waddling gait, Scoliosis, Hyperlordosis, Spinal rigidity ORPHA:97244
Stxbp1-Related Encephalopathy
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz... ORPHA:599373
Mucopolysaccharidosis-Plus Syndrome
Thickened skin, Epicanthus, Short neck, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesic... OMIM:617303
Gapo Syndrome
Sparse eyebrow, Abnormal form of the vertebral bodies, Sparse eyelashes, Nephrolithiasis, Underde... ORPHA:2067
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress, Elevated circulating creatinine concentration, O... OMIM:616733
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Respiratory ... ORPHA:240103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Urinary incontinence, Dystonia OMIM:600795
Neuroblastoma
Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Respiratory dis... ORPHA:635
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Myoclonus... OMIM:256700
Ascher Syndrome
Upper eyelid edema, Ptosis, Abnormal eyelid morphology, Blepharophimosis ORPHA:1253
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231226
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Neonatal hyperbilirubinemia, Tip-toe gait, Upper eyelid edem... ORPHA:293939
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Lumbar hyperlordosis, Thoracic scoliosis, Elevated circulating creatine kinase... ORPHA:206546
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D... OMIM:619065
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Hydromyelia, Urinary retention, Neurogenic bladder, Hydrocephalus, Rectal ... OMIM:600145
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Seizure, Respiratory distress, Leukopenia, Stage 5 chr... OMIM:251000
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Ataxia, Hepatomegaly, Jaun... ORPHA:20
Alexander Disease Type I
Spasticity, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, Hydrocephalus, Ataxia,... ORPHA:363717
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Short neck, Ptosis, Hyperlordosis, H... ORPHA:2522
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Seizure, Pancytopenia, Myoclonus, Tremor, El... OMIM:607426
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Seizure, Lumbar hyperlordosis, Upslanted palpebral fissure, Dys... ORPHA:3041
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Failure to thrive, Seizure, Myoclonus, Dysmetria OMIM:618251
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Seizure, Myoclonus, Ataxia, Urinary incontinence, Dystonia OMIM:620094
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Ptosis, Polyhydramnios, Facial palsy, Frontalis musc... OMIM:300580
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Myopathy, Centronuclear, 2
Oligohydramnios, Ptosis, Hyperlordosis, Facial palsy, Scoliosis, Kyphosis, Waddling gait OMIM:255200
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Hepatic failure, Seizure, Respiratory distress, Ascites, Hepatosplenomegaly, Ap... OMIM:608013
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Acute hepatic failure, 3-Methylglutaconic aciduria, Ataxia, Hepatomegaly, Jaundice,... OMIM:203700
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Abnormal circulating calcium concentration, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Ichthyosis, Elevated ci... ORPHA:98863
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor ORPHA:86814
Glycine Encephalopathy 1
Hyperglycinuria, Myoclonus, Seizure, Hyperglycinemia OMIM:605899
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Seizure, Myoclonus, Abnormal circulating arginine concentration, Abnormal circ... ORPHA:79096
Myoclonus, Intractable, Neonatal
Chorea, Apnea, Myoclonus, Ptosis, Athetosis, Clonic seizure, Dandy-Walker malformation OMIM:617235
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Tetraparesis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Loss of a... OMIM:167320
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Hyposerinemia, Seizure, Apnea, Myoclonus, Hypertonia OMIM:610992
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Status epilepticus, Dystoni... OMIM:615338
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Caribbean Parkinsonism
Ventriculomegaly, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinso... ORPHA:97355
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Lennox-Gastaut Syndrome
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... ORPHA:2382
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Horseshoe kidney, Epicanthus, Hyperlordosis, Scoliosis OMIM:617352
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis, Focal sensory seizure with olfactory features ORPHA:157835
Rin2 Syndrome
Upper eyelid edema, Scoliosis, Infra-orbital fold, Downslanted palpebral fissures ORPHA:217335
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thickened skin, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Epica... ORPHA:505248
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Sparse eyebrow, Edema, Failure to thrive, Congenital ichthyosiform erythroderma... OMIM:302960
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... ORPHA:1834
Typical Nemaline Myopathy
Nocturnal hypoventilation, Facial diplegia, Elevated circulating creatine kinase concentration, S... ORPHA:171436
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Failure to thrive, Seizure, Hypomethio... OMIM:236270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... ORPHA:98810
X-Linked Intellectual Disability, Stevenson Type
Palpebral edema, Obesity, Thick eyebrow ORPHA:85325
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Seizure, Tremor, Epicanthus, Short neck, Ataxia OMIM:618951
Sunct Syndrome
Facial edema, Palpebral edema, Ptosis, Conjunctival hyperemia ORPHA:57145
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Lateral ventricle dilatation, Seizure, Failure to thrive in infancy, Epileptic spa... ORPHA:284417
Hyperekplexia 4
Seizure, Infantile spasms, Myoclonus, Kyphoscoliosis, Hypertonia, Abnormal circulating acylcarnit... OMIM:618011
X-Linked Intellectual Disability, Schimke Type
Spasticity, Failure to thrive in infancy, Vesicoureteral reflux, Hydronephrosis, Choreoathetosis ORPHA:85285
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Metaphyseal Chondrodysplasia, Spahr Type
Gait disturbance, Scoliosis, Hyperlordosis ORPHA:2501
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Difficulty walking, Lumbar hyperlordosis, Elevated circulating creatine kin... ORPHA:86812
Wieacker-Wolff Syndrome
Spasticity, Seizure, Apnea, Upslanted palpebral fissure, Apraxia, Oculomotor apraxia, Short neck,... OMIM:314580
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Respiratory distress, Sei... OMIM:220110
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Absent eyelashes, Absent eyebrow,... OMIM:607823
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Spasticity, Infection associated neutropenia, Elev... ORPHA:445038
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231214
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Monosomy 22Q13.3
Seizure, Lymphedema, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Long eyelashes, Th... ORPHA:48652
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Tremor, Kyphoscoliosis, Impaired tandem gait, Polyminimyoclon... OMIM:619574
Neurogenic Arthrogryposis Multiplex Congenita
Fasciculations, Respiratory distress, Oligohydramnios, Scoliosis, Mildly elevated creatine kinase ORPHA:1143
Ck Syndrome
Seizure, Slender build, Lumbar hyperlordosis, Upslanted palpebral fissure, Almond-shaped palpebra... ORPHA:251383
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Hemiparesis, Focal hemiclonic seizur... ORPHA:1830
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Involuntary movements, Increased serum pyruvate ORPHA:238329
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Ichthyosis, Elevated ci... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Ichthyosis, Elevated ci... ORPHA:98853
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Apnea, Generaliz... ORPHA:1949
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz... OMIM:619028
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Apnea, Myoclonus, Ptosis, Ataxia, Increased serum pyruvate OMIM:618225
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Neurogenic bladder, Vocal cord... ORPHA:500144
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Spasticity, Seizure, Slender build, Myoclonus, Facial... ORPHA:364028
King-Denborough Syndrome
Webbed neck, Failure to thrive, Downslanted palpebral fissures, Bilateral ptosis, Lumbar hyperlor... OMIM:619542
Tarp Syndrome
Broad-based gait, Short palpebral fissure, Failure to thrive, Extramedullary hematopoiesis, Seizu... ORPHA:2886
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating hepatic transaminase concentration, Failure to thrive, Seizure, Downslanted ... OMIM:608799
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Ptosis, Gait disturbance, Facial hypotonia, Scoliosis OMIM:618578
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Failure to thrive, Seizure, Downslanted palpebral fissures, Di... ORPHA:442835
Valinemia
Hyperkinetic movements, Hypervalinemia, Failure to thrive, Valinuria OMIM:277100
Hereditary Geniospasm
Chin myoclonus, Abnormality of mentalis muscle ORPHA:53372
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Spasticity, Decreased circulating carnitine concent... OMIM:246450
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Ventriculomegaly, Horizontal eyebrow, Failure to thrive, Seizure, Spee... OMIM:609757
Myoclonus, Familial, 2
Dystonia, Limb myoclonus, Seizure OMIM:618364
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Oligohydramnios, Peritoniti... OMIM:619351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ... OMIM:618877
Holocarboxylase Synthetase Deficiency
Organic aciduria, Seizure, Respiratory distress, Hyperammonemia, Keratoconjunctivitis, Tachypnea,... ORPHA:79242
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... OMIM:607682
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Seizure, Downslanted p... OMIM:301056
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Ventriculomegaly, Hepatic failure, Micronodular cirrhosis, Seizure, Ascites, Postural... OMIM:301072
Fucosidosis
Beaking of vertebral bodies, Anterior beaking of lumbar vertebrae, Absent/hypoplastic coccyx, Hep... OMIM:230000
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Edema ORPHA:498359
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Respirat... OMIM:212140
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Osteopetrosis, Autosomal Recessive 2
Facial paralysis, Extramedullary hematopoiesis, Seizure, Hepatosplenomegaly, Pancytopenia, Hydroc... OMIM:259710
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Isolated Atp Synthase Deficiency
Spastic paraplegia, Renal hypoplasia, Myoclonic seizure, Seizure, Respiratory distress, Hyperammo... ORPHA:254913
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Sei... OMIM:619644
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Left ventricular hypertrophy, Loss of ability to wa... ORPHA:401866
Folinic Acid-Responsive Seizures
Broad-based gait, Generalized myoclonic seizure, Atonic seizure, Seizure, Respiratory distress, D... ORPHA:79097
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Seizure, Increased cir... ORPHA:158048
Congenital Sialidosis Type 2
Spasticity, Seizure, Ascites, Hepatosplenomegaly, Myoclonus, Dysmetria, Underdeveloped supraorbit... ORPHA:93400
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Seizure, Obesity, Scheuermann-like vertebral changes, Prominent s... OMIM:301900
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Inability to walk, Myoclonus... OMIM:617854
Igg4-Related Ophthalmic Disease
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Enlarged lacrimal glan... ORPHA:449563
Myopathy And Diabetes Mellitus
Tip-toe gait, Weakness of orbicularis oculi muscle, Respiratory distress, Inability to walk, Weak... ORPHA:2596
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Platyspondyly, Lymphopenia, Pancytopenia, Stage 5 chronic kid... OMIM:242900
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Hydronephrosis, Oculomotor apraxia, Abnormal pyramidal sign, Ata... OMIM:618060
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Spasticity, Lateral ventricle dilatation, Hepatosplenomeg... OMIM:619487
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Webbed neck, Ventriculomegaly, Ascites, Telecanthus, Pleural effusion, Polyhydramn... OMIM:616897
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ptosis, Hyperlordosis, Scoliosis, Mildly elevated creatine kinase... OMIM:616228
Thyrocerebroretinal Syndrome
Nephritis, Seizure, Myoclonus, Thrombocytopenia, Ataxia, Slurred speech OMIM:274240
Pleural Mesothelioma
Dyspnea, Respiratory distress, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... OMIM:230350
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Bilateral tonic-cl... OMIM:618093
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Lateral ventricle dilatation, Decreased body weight, Ataxia, Generalized non-motor (a... OMIM:619229
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthoto... ORPHA:13
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Loss of ambulation, Lower limb spasticity, Steppage gait, Hy... OMIM:620285
Parkes Weber Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Abnormality of the urinary system,... ORPHA:90307
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Myopathy With Extrapyramidal Signs
Difficulty walking, Epicanthus, Short neck, Hypervalinemia, Clonus, Ataxia, Hepatomegaly, Choreoa... OMIM:615673
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Seizure, Downslanted palpebral fissures, Difficulty walki... OMIM:611890
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, Splenomegaly, Renal hypoplas... ORPHA:1046
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Takenouchi-Kosaki Syndrome
Eversion of lateral third of lower eyelids, Unilateral renal agenesis, Ventriculomegaly, Webbed n... OMIM:616737
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... OMIM:251110
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Difficulty walking, Elevated circulating creatine kinase concentration, Hyperlordos... ORPHA:267
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Hepatomegaly, Generalized aminoaciduria, Hypotriglyceridemia, Ge... ORPHA:404454
Glut1 Deficiency Syndrome 2
Seizure, Reticulocytosis, Tremor, Splenomegaly, Reduced haptoglobin level, Ataxia, Dystonia, Hemo... OMIM:612126
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Splenomegaly, Abscess, Joint swelling, Elevat... OMIM:612852
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Seizure, Thick eyebrow, Prominent supraorbital ridges, Gait disturbance, Truncal obes... ORPHA:2429
Bilateral Generalized Polymicrogyria
Spasticity, Oculogyric crisis, Generalized myoclonic seizure, Lateral ventricle dilatation, Typic... ORPHA:208447
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to ... ORPHA:240085
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... ORPHA:367
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Spasticity, Steroid-resistant nephrotic syndrome, Ventriculom... OMIM:617731
Familial Visceral Myopathy
Abdominal situs inversus, Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Cere... OMIM:616505
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Spasticity, Methylmalonic aciduria, Failure to thrive, Seizure, Microcytic anemia,... OMIM:612073
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Long eyelashes, Infantile spasms, Myo... ORPHA:411986
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Inability to walk, Generalized-onset seizure, Obesity, Thick eyebrow, Upslanted palpe... OMIM:618443
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Epicanthus, Ataxia, Dystonia, S... OMIM:618218
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Gait disturbance, Hyperlordosis, Spinal rigidity ORPHA:157973
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Xerostomia, Ichthyosis, Dysmetria, Tremor, Babinski sign, Paraker... OMIM:618527
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ptosis, Ataxia OMIM:620158
Diaphanospondylodysostosis
Webbed neck, Unossified sacrum, Delayed vertebral ossification, Nephroblastomatosis, Respiratory ... OMIM:608022
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Facial myokymia, Ataxia, Kyphosis OMIM:620007
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Seizur... OMIM:617575
Congenital Enterovirus Infection
Hypoalbuminemia, Ventriculomegaly, Fetal ascites, Hepatic failure, Hepatitis, Respiratory distres... ORPHA:292
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Small for gestational age, Kyphosis, Seizure ORPHA:85288
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Ptosis, Torticollis, Hypomimic face, B... OMIM:619862
Congenital Disorder Of Deglycosylation 1
Action tremor, 3-Methylglutaconic aciduria, Decreased body weight, Hepatomegaly, Involuntary move... OMIM:615273
Congenital Syphilis
Extramedullary hematopoiesis, Seizure, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreati... ORPHA:499009
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Uns... OMIM:613818
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysmetria, Spastic ata... OMIM:614487
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Seizure, Apnea, Myoclonu... OMIM:614969
Blepharochalasis And Double Lip
Blepharochalasis OMIM:109900
Joubert Syndrome 37
Lumbar hyperlordosis, Obesity, Hydronephrosis, Oculomotor apraxia, Micropenis, Ptosis, Hepatomegaly OMIM:619185
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Combined Oxidative Phosphorylation Deficiency 18
Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Increased mitochondrial number, O... OMIM:615578
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Obesity, Action tremor, Dysmetria, Babinski ... ORPHA:93952
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Seizure, Difficulty walking, Speech apra... OMIM:615356
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Spasticity, Hepatic fibrosis, Failure to thrive, Decre... OMIM:617093
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dystonia ORPHA:324588
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Back pain, Renal cyst, Dyspnea, Polycystic liver disease OMIM:174050
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Failure to thrive, Mildly elevated creatine kinase, Kyphoscoliosis, Weakness of fac... ORPHA:536516
Joubert Syndrome 35
Renal fibrosis, Highly arched eyebrow, Multicystic kidney dysplasia, Recurrent urinary tract infe... OMIM:618161
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chy... ORPHA:2414
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Tip-toe gait, Increased LDL cholesterol concentration, Obesity, Ichthyosis, Elevated ci... ORPHA:98855
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Seizure, Dilated fourth ventricle, Myoclonus, Vesicoure... ORPHA:3078
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Acromegaly
Thickened skin, Long penis, Cerebral palsy, Spinal canal stenosis, Wide penis, Joint swelling, Ac... ORPHA:963
Progressive Myoclonic Epilepsy Type 3
Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Wolfram Syndrome 1
Hydroureter, Seizure, Sideroblastic anemia, Tremor, Hydronephrosis, Neurogenic bladder, Megalobla... OMIM:222300
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Failure to thrive, Seizure, Respiratory distress, Infantile spasms, Edema of the dors... ORPHA:544503
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Renal hypoplasia, Decreased liver function, Seizure, Renal insufficiency, ... OMIM:614922
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Seizure, Inability to walk, Oligohydramnios, Increas... OMIM:618494
Branchioskeletogenital Syndrome
Highly arched eyebrow, Ureteral stenosis, Abnormality of the vertebral spinous processes, Seizure... ORPHA:1299
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Japanese Encephalitis
Pulmonary edema, Opisthotonus, Neutrophilia, Paucity of anterior horn motor neurons, Cerebral ede... ORPHA:79139
Noonan Syndrome 4
Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Large for gestatio... OMIM:610733
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Ataxia-Telangiectasia-Like Disorder
Chorea, Dilated fourth ventricle, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor... ORPHA:251347
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253000
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto... ORPHA:1935
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Xerostomia, Periorbital fullness, Abnormality of the extraocular muscles, Weight lo... ORPHA:79078
Spinocerebellar Ataxia, Autosomal Recessive 20
Spasticity, Short palpebral fissure, Oligosacchariduria, Seizure, Inability to walk, Splenomegaly... OMIM:616354
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Bilateral ptosis, Respiratory distress, Difficulty walking, Failure to thrive in infancy, General... ORPHA:254875
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Webbed neck, Seizure, Downslanted palpebral fissures, Upslanted palpeb... ORPHA:261337
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Seizure, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopeni... OMIM:598500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Downslanted palpebral fissures, Telecanthus, Hyperlordosis, Thrombo... OMIM:619980
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Sjögren-Larsson Syndrome
Spasticity, Seizure, Ichthyosis, Abnormal pyramidal sign, Hyperkeratosis, Scoliosis, Kyphosis, Sp... ORPHA:816
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... ORPHA:254343
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Blepharochalasis, Superior
Blepharochalasis OMIM:110000
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Flynn-Aird Syndrome
Hyperkeratosis, Seizure, Kyphoscoliosis, Ataxia OMIM:136300
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Urinary bladder sphincter dysfunction, Rigidity, Babinski sign, ... ORPHA:363722
Tularemia
Brain abscess, Cutaneous abscess, Respiratory distress, Cervical lymphadenopathy, Abnormal nasoph... ORPHA:3392
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,... OMIM:617282
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Ventriculomegaly, Myoclonic seizure, Failure to thrive, Infantile spasms, Myoclonus, ... OMIM:615851
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Seizure, Ascites, Hypocholesterolemia, Pericardial effusion, ... OMIM:608776
Mogs-Cdg
Generalized edema, Short palpebral fissure, Seizure, Respiratory distress, Hepatosplenomegaly, Ap... ORPHA:79330
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Episodic Ataxia, Type 5
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... OMIM:613855
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Ventriculomegaly ORPHA:171703
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia, Anasarca OMIM:260450
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema OMIM:608470
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Obesity, Apnea,... OMIM:300055
Neuropathy, Congenital, With Arthrogryposis Multiplex
Babinski sign, Spasticity, Hyperlordosis, Broad-based gait OMIM:162370
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Alexander Disease
Spasticity, Seizure, Dysmetria, Babinski sign, Hydrocephalus, Ataxia, Palatal tremor OMIM:203450
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Elevated circulating creatine kinase concentration, Gait disturbance, Hyperlordosis, Back pain OMIM:618129
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Seizure, Gait ataxia, Hyperammonemia, Tremor, Elevated plasma ci... ORPHA:3124
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Kyphosis ORPHA:319199
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Generalized myoclonic seizure, Myoclonus, Dysmetria, Oculomotor ... ORPHA:313772
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis, Seizure ORPHA:2744
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Dystonia, Hem... OMIM:615010
Myotonia Permanens
Epicanthus, Gait disturbance, Hyperlordosis, Hypertonia, Dyspnea ORPHA:99735
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... ORPHA:49041
Myopathy, Myofibrillar, 7
Enuresis nocturna, Spinal rigidity, Difficulty walking, Lumbar hyperlordosis, Elevated circulatin... OMIM:617114
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Microcytic a... OMIM:600462
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Myoclonic seizure, Failure to thrive, Generalized dystonia, Seizure, Long eyelashes, ... OMIM:618076
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Congenital Myasthenic Syndromes With Glycosylation Defect
Frequent falls, Difficulty walking, Lumbar hyperlordosis, Elevated circulating creatine kinase co... ORPHA:353327
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Tremor, Pa... OMIM:618049
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Failure to thr... OMIM:610377
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... OMIM:613561
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Cdkl5-Deficiency Disorder
Difficulty walking, Infantile spasms, Focal-onset seizure, Generalized tonic seizure, Gait distur... ORPHA:505652
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Neurogenic bladde... OMIM:617669
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, De... ORPHA:508533
Somatomammotropinoma
Thickened skin, Cerebral palsy, Spinal canal stenosis, Joint swelling, Acanthosis nigricans, Palp... ORPHA:314769
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l... ORPHA:100024
Perching Syndrome
Respiratory distress, Scoliosis OMIM:617055
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Thickened skin, Lateral ventricle dilatation, Pyelon... OMIM:181270
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Seizure, Ichthyosis, Sparse eyelashes, Hydronephrosis, Acanthosis ... ORPHA:634
6P22 Microdeletion Syndrome
Hydronephrosis, Epicanthus, Short neck, Hydrocephalus ORPHA:251046
Hypocomplementemic Urticarial Vasculitis
Cerebral palsy, Angioedema, Ascites, Seizure, Renal insufficiency, Splenomegaly, Hemiplegia/hemip... ORPHA:36412
Griscelli Syndrome
Bone marrow hypocellularity, Spasticity, Hepatitis, Abnormal circulating lipid concentration, Sei... ORPHA:381
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Whipple Disease
Seizure, Myoclonus, Splenomegaly, Hyponatremia, Hepatomegaly, Cachexia, Abnormal pyramidal sign, ... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Generalized-onset seizure, Dilated f... OMIM:212065
Myasthenic Syndrome, Congenital, 5
Ptosis, Scoliosis, Hyperlordosis OMIM:603034
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Inability to walk, Limb fasciculations, Tremor, Elevated circu... ORPHA:90117
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Spinocerebellar Ataxia Type 13
Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Urinar... ORPHA:98768
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Failure to thrive, Generalized dystonia, Seizure, Inability... OMIM:312080
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Ventriculomegaly, Myoclonic seizure, Seizure, Myoclonus, Increased hepatic glycoge... OMIM:614946
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Difficulty walking, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spi... OMIM:609308
Distal Deletion 10Q
Acute kidney injury, Spasticity, Functional abnormality of the bladder, Lateral ventricle dilatat... ORPHA:96148
Farber Disease
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:333
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso... OMIM:619725
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Respirato... OMIM:121300
Niemann-Pick Disease, Type A
Spasticity, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Inability to w... OMIM:257200
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... ORPHA:86909
Geniospasm 1
Chin myoclonus OMIM:190100
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Myoclonus, Babinski sign, Apraxia, Gait disturbance OMIM:618193
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Sepsis In Premature Infants
Oliguria, Decreased liver function, Seizure, Reversible renal failure, Leukocytosis, Splenomegaly... ORPHA:90051
Recombinant Chromosome 8 Syndrome
Ventriculomegaly, Seizure, Hydronephrosis, Hypertonia, Infra-orbital crease, Scoliosis OMIM:179613
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Speech apraxia, Focal clonic seizure... ORPHA:725
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He... ORPHA:454836
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Ankle clo... OMIM:211530
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Sparse eyebrow, Failure to thrive, Downslanted pa... ORPHA:261349
Riboflavin Transporter Deficiency
Seizure, Myoclonus, Tremor, Cachexia, Ptosis, Ataxia, Facial palsy ORPHA:97229
Lopes-Maciel-Rodan Syndrome
Spasticity, Focal impaired awareness seizure, Seizure, Bradykinesia, Tremor, Ankle clonus, Abnorm... OMIM:617435
Visceral Myopathy 2
Megacystis OMIM:619350
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Dystonia, Loss of ambulation, Parkinsonism, ... OMIM:168601
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Myoclonus, Babinski sign, Ptosis, Ataxia, Truncal ataxia, Dystonia OMIM:252011
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Tetraparesis, Microcytic anemia, Infantile spasms, Myoclonus, Hypospadias, Focal-onse... OMIM:618972
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Ventriculomegaly, Myoclonic seizure, Failure to thrive, Seizure, Infantile... OMIM:620352
Cardiofaciocutaneous Syndrome 1
Webbed neck, Palpebral thickening, Failure to thrive, Seizure, Downslanted palpebral fissures, Sp... OMIM:115150
Usmani-Riazuddin Syndrome, Autosomal Dominant
Spasticity, Hooded eyelid, Seizure, Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Respiratory distress, Elevated circ... OMIM:274150
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... OMIM:612949
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Neurogeni... ORPHA:171695
Linear Verrucous Nevus Syndrome
Ventriculomegaly, Seizure, Hypophosphatemia, Hyperkeratosis, Abnormality of the kidney, Scoliosis... ORPHA:2611
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Ventriculomegaly, Seizure, Spas... OMIM:252150
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Elevated circulating gamma-aminobutyric acid concentrati... OMIM:271980
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Spasticity, Lymphopenia, Lumbar hyperlordosis, Joint swelling, T lymphocytopenia, ... OMIM:607944
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Unstea... ORPHA:2585
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Oligohydramnios, Proteinuria, Diffuse mes... OMIM:609049
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Arm dystonia, Fasciculations, Upper motor neuron dysfunction, Dysmetria, Ankle clonus... ORPHA:88644
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Epicanthus, Hyperlordosis, Scoliosis, Thoracic kyp... ORPHA:557003
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Ventriculomegaly, Myoclonic seizure, Respiratory distress, Inability to walk, Telecanthus, Thick ... OMIM:619383
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Oliguria, Elevated circulating hepatic transaminase concentratio... ORPHA:319213
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature OMIM:610313
Zaki Syndrome
Sparse eyebrow, Renal agenesis, Seizure, Sparse lateral eyebrow, Dilated fourth ventricle, Hydron... OMIM:619648
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of the urinary system, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:2204
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Seizure, Oligohydramnios, Myoclonus, Upslanted palpebral fissure, Hydronep... ORPHA:247262
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lumbar hyperlordosis, Hyperlipidemia, Hepatic steatosis... OMIM:615980
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Failure to thrive, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, At... OMIM:618356
Multiple Sulfatase Deficiency
Periorbital edema, Spasticity, Ventriculomegaly, Splenomegaly, Ichthyosis, Hypoplastic vertebral ... OMIM:272200
Immunodeficiency 95
Respiratory distress, Lymphopenia OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 18
Myoclonic seizure, Hydroureter, Myoclonus, Hydronephrosis, Hypertonia OMIM:618240
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, Seizure, Tremor, Rigidity, Gait disturbance, Ataxia, Urinary incontinence OMIM:603472
Poikiloderma With Neutropenia
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Leukopenia, Splenomegaly, Eleva... OMIM:604173
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Arboleda-Tham Syndrome
Webbed neck, Highly arched eyebrow, Seizure, Recurrent urinary tract infections, Respiratory dist... OMIM:616268
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Difficulty... ORPHA:905
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... OMIM:617013
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinsk... OMIM:606693
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Seizure, Infantile spasms, Myoclonus, Vesicoureteral reflux, Right ventricular... OMIM:614261
Pseudodiastrophic Dysplasia
Platyspondyly, Webbed neck, Hypoplasia of the odontoid process, Failure to thrive, Tongue-like lu... OMIM:264180
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Cirrhosis, Ataxia, Hepato... ORPHA:1454
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Seizure, Chorea, Astrocytosis, Spastic hemiparesis,... ORPHA:282166
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Seizure, Downslanted palpebral fissures, Displacement of the ur... ORPHA:1727
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Diastrophic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosi... OMIM:222600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Generalized dystonia, Seizure, Chorea, Pancytopenia, Myoclonus, Gait ataxia, In... OMIM:618321
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Noonan Syndrome 8
Webbed neck, Failure to thrive, Downslanted palpebral fissures, Large for gestational age, Pleura... OMIM:615355
Mepan Syndrome
Spasticity, Hemidystonia, Failure to thrive, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Cr... ORPHA:508093
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Tetanus
Elevated urinary norepinephrine level, Respiratory distress, Tremor, Rigidity, Elevated circulati... ORPHA:3299
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:541423
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Ventriculomegaly, Microphallus, Seizure, Tremor, Hyperkinetic movements, Gait disturb... OMIM:300957
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Seizure, Intestinal lymphangiectasia, Horseshoe kidney, Lymphedema, Pericardial ... OMIM:235510
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Failure to thrive, Seizure, Almond-shaped palpebral fissure, Epicanthus,... OMIM:300986
Alström Syndrome
Chronic kidney disease, Incoordination, Hepatosplenomegaly, Hepatic steatosis, Lumbar scoliosis, ... ORPHA:64
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, 3-Methylglutaconic aciduria, Hepatomegaly, Unsteady gait, Hypospadias, Choreoa... ORPHA:17
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Lateral ventricle dilatation, Downslanted palpebral fissures, Failure to thrive ... OMIM:611209
Phenylketonuria
Seizure, Tremor, Phenylalaninuria, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Prominent eyelashes, Failure to thrive, Seizure, Febrile seizure (within the ag... OMIM:619179
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Limb ataxia, Gait ataxi... OMIM:616719
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Respiratory distress, Myoclonus, Hyperglycinemia, Abnormality of extrapyrami... OMIM:614299
Insulin-Resistance Syndrome Type A
Hyperkeratosis ORPHA:2297
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Omenn Syndrome
Thickened skin, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, He... ORPHA:39041
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Koolen-De Vries Syndrome
Ventriculomegaly, Seizure, Vesicoureteral reflux, Ichthyosis, Renal duplication, Vertebral segmen... ORPHA:96169
Cholestasis-Lymphedema Syndrome
Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract ... ORPHA:1414
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Vertebral wedging, Joint swelling, Hyperconvex vertebral body endplates, Beaking o... ORPHA:1159
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Renal hypoplasia, Ventriculomegaly, Trichiasis, Failure to thrive, Lymphop... OMIM:618460
Peho Syndrome
Seizure, Myoclonus, Edema of the dorsum of hands, Epicanthus, Edema of the dorsum of feet, Edema OMIM:260565
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Mosaic Trisomy 9
Webbed neck, Ventriculomegaly, Horseshoe kidney, Oligohydramnios, Upslanted palpebral fissure, Hy... ORPHA:99776
D-Glyceric Aciduria
Aminoaciduria, Spasticity, Failure to thrive, Seizure, Status epilepticus, Focal clonic seizure, ... OMIM:220120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Thoracic scoliosis, Ataxia, T... OMIM:610185
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Abnormal anterior horn cell morphology, Respiratory distress, Kyphoscolios... ORPHA:1145
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Episodic Ataxia Type 1
Tip-toe gait, Respiratory distress, Kyphoscoliosis, Clumsiness, Hypertonia, Poor coordination, Sc... ORPHA:37612
Pure Mitochondrial Myopathy
Frequent falls, Bilateral ptosis, Lumbar hyperlordosis, Loss of ambulation, Recurrent myoglobinur... ORPHA:254854
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Fucosidosis
Spasticity, Kyphosis, Failure to thrive, Seizure, Generalized hyperkeratosis, Abnormality of the ... ORPHA:349
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Seizure, Tremor, Rigidity, Hyperkinetic movements, Elevated ur... OMIM:233910
Suleiman-El-Hattab Syndrome
Webbed neck, Palpebral thickening, Highly arched eyebrow, Failure to thrive, Seizure, Downslanted... OMIM:618950
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Brain abscess, Focal impaired awareness seizure, Seizure, Respiratory distress, Lu... OMIM:616482
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Acanthosis nigricans, Kyphosis, Hyperlordosis ORPHA:3085
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Small for gestational age, Cerebral palsy, Downsl... OMIM:615834
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Seizure, Downslanted palpebral fissures, Increased nuchal transl... ORPHA:2655
Erdheim-Chester Disease
Xanthelasma, Renal insufficiency, Pleural effusion, Joint swelling, Hydronephrosis, Anemia, Weigh... ORPHA:35687
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Chondroitin sulfate excretion in urine, Kerata... OMIM:253010
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Seizure, Renal insufficiency, Ichthyosis, Hyperkeratosis ORPHA:281090
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Ventriculomegaly, Inability to walk, Polyhydramnios, Weakness of facial musculature, ... OMIM:301041
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... ORPHA:329178
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Ptosis, Torticollis, Writer's cramp, D... OMIM:619724
Acquired Ichthyosis
Palmoplantar keratoderma, Renal insufficiency, Ichthyosis, Hyperkeratosis ORPHA:454
Niemann-Pick Disease Type C
Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi... ORPHA:646
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Ventriculomegaly, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality of ext... ORPHA:500180
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Seizure, Generalized myoclonic-atonic seizure, Downslanted palpebr... OMIM:614756
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Immunodeficiency 23
Scoliosis, Failure to thrive, Lymphopenia, Myoclonus, Abscess, Eosinophilia, Membranoproliferativ... OMIM:615816
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Juvenile Dermatomyositis
Elevated circulating creatine kinase concentration, Weight loss, Elevated circulating C-reactive ... ORPHA:93672
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Ventriculomegaly, Short palpebral fissure, Seizure, Hydronephrosis, Short ... ORPHA:2083
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... ORPHA:289266
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Apnea, Focal-onset seizure, Rigidity, Babinski sign, Clonus, Limb ... OMIM:614498
Gm1-Gangliosidosis, Type I
Abnormality of the urinary system, Seizure, Splenomegaly, Hypoplastic vertebral bodies, Short nec... OMIM:230500
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Downslanted palpebral fissures, Telecanthus, Blepharochalasis, Epicanthus, Gingival hyperkeratosis OMIM:225410
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Ptosis, Hyperlordosis, Facial palsy OMIM:160150
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Palmoplantar hyperkeratosis, Failure to thrive, Hyperkeratosis ORPHA:89838
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Seizure, Obesity, Hydronephrosis, Epican... OMIM:620511
Trisomy 13
Seizure, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Multiple... ORPHA:3378
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism... ORPHA:306669
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Inability to walk, Dysmetria, Dystonia, Ventriculom... ORPHA:845
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, U... OMIM:609384
Stt3B-Cdg
Failure to thrive, Seizure, Respiratory distress, Thrombocytopenia, Micropenis ORPHA:370924
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Short neck, Hyperlordosis, Thoracolumbar kyphoscoliosis, O... OMIM:617396
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Anemia, Hyperkeratosis, Edema ORPHA:166113
Alexander Disease
Spasticity, Failure to thrive, Seizure, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clon... ORPHA:58
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Palpebral edema, Pyelonephritis,... ORPHA:2036
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Seizure, Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsines... ORPHA:137898
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Generalized-onset seizure, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Nonimmun... OMIM:618265
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Short neck, Multiple renal c... ORPHA:66637
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Central hypoventilation, Apnea, Myoclonus, Nonimmune hydrops fetalis, Dystonia, Small fo... OMIM:620167
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Nephrolithiasis, Elevated circula... ORPHA:352447
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Kyphoscoliosis, Hyperlordosis, Truncal obesity, Coronal cleft vertebrae, Scoliosis, Irre... OMIM:618363
Aicardi-Goutieres Syndrome 4
Spasticity, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Seizure, H... OMIM:610333
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign,... ORPHA:204
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Seizure, Prominent supraorbital ridges, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys ORPHA:85317
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Seizure, Respiratory distress, Thrombocytopenia, Micropenis OMIM:615597
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Seizure, Respiratory distress, Paraplegia, Hyperammonemia, Acute hyperammonemi... ORPHA:927
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Respiratory distress, Elevated circulating aspartate... OMIM:616974
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia OMIM:254120
Muscular Dystrophy, Congenital, With Or Without Seizures
Ventriculomegaly, Myoclonic seizure, Generalized non-motor (absence) seizure, Respiratory distres... OMIM:620166
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Scoliosis, Kyphosis OMIM:617087
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubu... OMIM:259730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Fetal Gaucher Disease
Seizure, Ectropion, Abnormality of the spleen, Pancytopenia, Splenomegaly, Ichthyosis, Thrombocyt... ORPHA:85212
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Poor fine motor coordination, Methylmalonic aci... ORPHA:79282
Trisomy 17P
Scoliosis, Downslanted palpebral fissures, Hydronephrosis, Broad eyebrow, Short neck, Ptosis, Hyd... ORPHA:261290
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Mitochondrial Complex I Deficiency, Nuclear Type 37
Ventriculomegaly, Failure to thrive, Seizure, Respiratory distress, Opisthotonus, Tetraplegia, Hy... OMIM:619272
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Schindler Disease, Type I
Myoclonus, Spasticity, Increased urinary O-linked sialopeptides, Seizure OMIM:609241
Narp Syndrome
Ventriculomegaly, Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia ORPHA:644
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea ORPHA:1832
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor... ORPHA:545
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Seizure, Downslanted palpebral fiss... ORPHA:46059
Microphthalmia, Lenz Type
Webbed neck, Ankyloblepharon, Hydroureter, Seizure, Renal hypoplasia/aplasia, Hydronephrosis, Hyp... ORPHA:568
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Seizure, Renal insufficiency, Myoclonus, Renal tubular dysfuncti... ORPHA:31826
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Spinocerebellar Ataxia 42
Spastic gait, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Urinary inc... OMIM:616795
Trisomy 20P
Platyspondyly, Highly arched eyebrow, Abnormal form of the vertebral bodies, Downslanted palpebra... ORPHA:261318
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Respiratory distress, Myoclonus, Clonus, Exaggerated startle respo... OMIM:618201
Stuve-Wiedemann Syndrome 2
Respiratory distress, Scoliosis, Thrombocytopenia OMIM:619751
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Obesity, Myoclonus, Proteinuria, Episodic hemolytic anemia, Increased blood urea nitroge... ORPHA:251004
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Spasticity, Small for gestational age, Short palpebral fissure, Cerebral p... ORPHA:352490
D-Glyceric Aciduria
Hyperglycinuria, Spasticity, Increased circulating free fatty acid level, Seizure, Chorea, Myoclo... ORPHA:941
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor... OMIM:213200
Alveolar Echinococcosis
Abnormal vertebral morphology, Abnormal mesentery morphology, Hemiparesis, Abnormal spleen morpho... ORPHA:284
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Kyphosis, Chorea, Dysmetria, Abnormality of the cervical spine, Abnormal pyrami... ORPHA:48431
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Failure to thrive, Tetraparesis, Elevated urinary inosine ... OMIM:613179
Cohen Syndrome
Seizure, Downslanted palpebral fissures, Leukopenia, Lumbar hyperlordosis, Thick eyebrow, Thoraci... OMIM:216550
Cat-Eye Syndrome
Hydronephrosis, Downslanted palpebral fissures, Abnormal localization of kidney, Renal hypoplasia... ORPHA:195
9Q21.13 Microdeletion Syndrome
Seizure, Difficulty walking, Vertebral segmentation defect, Hydronephrosis, Long palpebral fissur... ORPHA:531151
Combined Oxidative Phosphorylation Deficiency 51
Myoclonus, Small for gestational age, Rigidity OMIM:619057
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Scoliosis, Kyphosis, Seizure OMIM:300434
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Weig... ORPHA:449395
Schwartz-Jampel Syndrome
Abnormality of the ureter, Decreased body weight, Short neck, Cachexia, Blepharophimosis, Spinal ... ORPHA:800
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Pt... OMIM:610743
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydronephrosis, Urethral atre... OMIM:314390
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventriculomegaly, Downslanted palpebral fissures, Increased nuchal translucency, Butterfly verteb... OMIM:618870
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Seizure, Downslanted palpebral fissures, Obesity, Scoliosis, Kyphosis ORPHA:276630
Fructose-1,6-Bisphosphatase Deficiency
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Neonatal hyperbilirubi... ORPHA:348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Tachypnea, Tetraplegia, Poikilocytosis, Elliptocytosis, Hepatomegaly, Unconju... OMIM:618278
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Elevated circulating phytanic acid concentration, Abnormality of the liver, ... OMIM:614307
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Lymphadenopathy, ... ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating hepatic transaminase concentration, Seizure, Respiratory distress, Elevated ... OMIM:615042
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Ventriculomegaly, Generalized myoclonic seizure, Failure t... OMIM:230600
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity... OMIM:620451
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Generalized dystonia, Seizure, Myoclonus, Gait disturbance, Abnorma... ORPHA:412217
Sézary Syndrome
Palmoplantar keratoderma, Ectropion, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lympha... ORPHA:3162
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Facial diplegia, Clumsiness, Sh... OMIM:157900
Cardiofaciocutaneous Syndrome
Webbed neck, Palmoplantar keratoderma, Lymphedema, Failure to thrive in infancy, Downslanted palp... ORPHA:1340
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Failure to thrive, Decreased liver function, Seizure, Elevated circulati... OMIM:608779
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden ep... OMIM:254210
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Seizure, Downslanted palpebral fissures, Spastic diplegia, Hydronephrosis, Thrombocytopenia, Incr... OMIM:300048
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Parkinsonism, Cirrhosis, Hepatomegaly... ORPHA:77259
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Cerebral palsy, Generalized non-motor (absence) seizure, Slender build, Chorea... OMIM:617600
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Focal myoclonic seizure, Dysmetria, Unsteady gait, Abnormal pyramidal sign, Ataxia, Palpebral ede... ORPHA:314647
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnorma... ORPHA:443811
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Waddling gait OMIM:617760
Three M Syndrome 1
Increased vertebral height, Thick eyebrow, Short neck, Hyperlordosis, Spina bifida occulta, Hypos... OMIM:273750
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Inability to walk, Dilated fourth ventricle, Gait ataxia, Dysmetria, Tremor, Abnormal py... OMIM:614831
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Abnormal circulating creatine ki... OMIM:232500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Small for gestational age, Failure to thrive, Seizure, Myoclonus,... OMIM:619055
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Small for gestational age, Kyphosis, Waddling gait OMIM:618392
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Long eyelashes in irregular rows, Kyphosc... OMIM:255800
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Tachypnea, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Tip-toe ga... ORPHA:3008
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Ventriculomegaly, Seizure, Incr... OMIM:252160
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus, Dystonia, Kyphosis, Lower li... OMIM:614898
Acute Monoblastic/Monocytic Leukemia
Periorbital edema, Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Failure to thrive, Bilateral tonic-clonic seizure, Dystonia, Kyphosis OMIM:618237
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Generalized non-motor (absence) seizure, Pancytopenia, Absence... OMIM:613839
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Sp... OMIM:613327
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Seizure, Episodic tachypnea, Apnea, Loss of ambulation, Clumsiness, Park... ORPHA:79264
Congenital Myopathy 10B, Mild Variant
Difficulty walking, Abnormal circulating creatine kinase concentration, Elevated circulating crea... OMIM:620249
Acute Lung Injury
Respiratory distress, Tachypnea, Elevated circulating C-reactive protein concentration, Dyspnea, ... ORPHA:178320
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis, Short neck, Ptosis, Blepharo... ORPHA:1745
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Seizure, Central hypoventilation, Apnea, Myoclonus, Rigidity OMIM:300673
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Eversion of lateral third of lower eyelids, Unilateral renal agenesis, Ventriculomegaly, Webbed n... ORPHA:487796
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Gait disturbance,... OMIM:620538
O'Donnell-Luria-Rodan Syndrome
Seizure, Downslanted palpebral fissures, Prolonged neonatal jaundice, Periorbital fullness, Kyphosis OMIM:618512
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Seizure, Inability to walk, Telecanthus, Myoclonus, Long palpebral fissure OMIM:616158
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Akinesia, Polyhydramnios, Edema OMIM:607598
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden ep... OMIM:605809
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Seizure, Increased nuchal translucency, Acanthosis nigricans, Hy... ORPHA:93274
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress, Oligohydramnios, Aplasia/Hypoplasia of the eyebrow, Thin... ORPHA:261304
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Ventriculomegaly, Chorea, Infantile spasms, Hyperkinetic movem... OMIM:617493
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Seizure, Horseshoe kidney, Inability to walk, Tremor, Kyphoscoliosis, Ptosis, Dystoni... OMIM:617664
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Per... OMIM:260400
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Myoclonus, Dysmetria, Neurogenic bladder, Abnormal pyramidal sign OMIM:619780
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to PTH administration, Hyp... ORPHA:94089
Listeriosis
Acute kidney injury, Brain abscess, Conjunctivitis, Seizure, Respiratory distress, Pyelonephritis... ORPHA:533
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho... OMIM:277900
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Cachexia, Weight loss... ORPHA:77297
Pyruvate Dehydrogenase Deficiency
Spasticity, Ventriculomegaly, Cerebral palsy, Seizure, Upslanted palpebral fissure, Tremor, Epica... ORPHA:765
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Mitochondrial swelling, Respiratory distress, Elevated circulating aspartate a... OMIM:615595
Chromosome 10Q26 Deletion Syndrome
Webbed neck, Broad-based gait, Seizure, Downslanted palpebral fissures, Lumbar hyperlordosis, Ves... OMIM:609625
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Lymphedema, Neonatal cholestatic liver d... OMIM:214900
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Lumbar hyperlordosis, Ptosis, Facial palsy, Scoliosis OMIM:255310
Stiff-Person Syndrome
Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Ane... OMIM:184850
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Mildly elevated creatine kinase, Facial diplegia, Tremor, Par... ORPHA:329478
X-Linked Centronuclear Myopathy
Respiratory distress, Polyhydramnios, Inability to walk, Weakness of facial musculature ORPHA:596
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Episodic respiratory distress, Low plasma citrulline, Ataxia, Hepatomegaly, Chorea, I... ORPHA:255210
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Renal hypoplasia, Failure to thrive, Seizure, Vesicoureteral reflux, Upslanted ... OMIM:613735
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, Gait disturbance, Bil... OMIM:618090
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Spasticity, Dilated third ventricle, Cholelithiasis, Lateral ventricle dilatation, M... ORPHA:464738
Autosomal Dominant Spondylocostal Dysostosis
Upslanted palpebral fissure, Vertebral segmentation defect, Short neck, Hyperlordosis, Spina bifi... ORPHA:1797
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:99014
Microcephaly, Amish Type
Hepatomegaly, Myoclonus, Limb hypertonia, Failure to thrive OMIM:607196
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Respiratory distress, Poly... ORPHA:2759
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Short neck, Mucopolysacchariduria, Hyperlordosis, Scoliosis,... OMIM:252605
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Hypoplasia of the odontoid process, Renal insufficiency, Upslanted palpebral fissu... OMIM:226980
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Respiratory distress, Butterfly vertebrae, Polyhydramnios, Hypocalcemia, Epica... OMIM:607143
Ullrich Congenital Muscular Dystrophy 1A
Failure to thrive, Mildly elevated creatine kinase, Slender build, Nocturnal hypoventilation, Fol... OMIM:254090
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Hypoventilation, Elevated circulating creatine kinase concentration, Loss of ambula... OMIM:310200
Scapuloperoneal Spinal Muscular Atrophy
Broad-based gait, Hyperlordosis, Torticollis, Facial palsy, Scoliosis, Kyphosis OMIM:181405
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Scoliosis, Hyperlordosis, Underdeveloped supraorbital ridges ORPHA:2511
Spondyloepiphyseal Dysplasia Tarda
Platyspondyly, Hypoplasia of the odontoid process, Hump-shaped mound of bone in central and poste... ORPHA:93284
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Lumbar hyperlordosis, Scol... OMIM:619451
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Abnormal sacral segmentation, Seizure, Downslanted palpebral fissures, Obesity, Long eyelashes, T... ORPHA:480907
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating hepatic transaminase concentration, Downslanted palpebral fissures, Difficul... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Tetraparesis, Chorea, Myoclonus, Hyperammonemia, Microvesicular hepatic steato... OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Leukopenia, Leukocytosis, Pleural effusion, Tachypnea, Elevated circulating... ORPHA:36238
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Seizure, Downslanted palpebral fissures, Respiratory distress, Speech apr... ORPHA:314655
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Failure to thrive in infancy, Pancytopenia, Increased vertebral height, Hypersplenism,... OMIM:613385
Alfadhel Syndrome
Spastic paraplegia, Highly arched eyebrow, Seizure, Horseshoe kidney, Bilateral tonic-clonic seiz... OMIM:620655
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Respiratory distress, Abnormality of the liver, He... ORPHA:254864
Nipah Virus Disease
Respiratory distress, Myoclonus, Seizure, Tremor ORPHA:99825
Chromosome 2P16.1-P15 Deletion Syndrome
Ventriculomegaly, Spasticity, Short palpebral fissure, Downslanted palpebral fissures, Telecanthu... OMIM:612513
48,Xxyy Syndrome
Ventriculomegaly, Seizure, Azoospermia, Apnea, Obesity, Upslanted palpebral fissure, Tremor, Epic... ORPHA:10
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Joint swelling, Kyphoscoliosis, Bladder diverticulum, Bilat... ORPHA:2976
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Spasticity, Seizure, Large for gestational age, Vesicoureteral reflux, Tremor, Hydronephrosis, Ep... OMIM:614080
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Spasticity, Ventriculomegaly, Seizure, Downslanted palpebral fissures, Hydronephrosi... OMIM:616449
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Pleural effusion, Weight loss, Lymphadenopathy, Pericardial effusion ORPHA:411703
Congenital Disorder Of Glycosylation, Type If
Ventriculomegaly, Failure to thrive, Seizure, Renal cortical cysts, Hypertonia, Ataxia, Hyperkera... OMIM:609180
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Recurrent urinary tract infections, Respiratory distress, Elevated ci... ORPHA:36234
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Inability to walk, Astrocytosis, Hypoventilatio... ORPHA:258
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Hydronephrosis, Limb hypertonia, Bilateral tonic-c... ORPHA:488613
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Failure to thrive, Respiratory distress, Difficulty walking, Inability to wal... ORPHA:365
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Kury-Isidor Syndrome
Seizure, Downslanted palpebral fissures, Hydronephrosis, Short neck, Ptosis, Scoliosis, Sacral di... OMIM:619762
Hypochondroplasia
Hyperlordosis, Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies ORPHA:429
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Waddling gait ORPHA:156728
Orofaciodigital Syndrome Xv
Hydronephrosis, Ventriculomegaly OMIM:617127
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Pleural e... ORPHA:457077
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Pelizaeus-Merzbacher Disease
Spasticity, Abnormality of the urinary system, Kyphosis, Seizure, Failure to thrive in infancy, C... ORPHA:702
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Loss of ambulation, Hyperlordosis, Scoliosis,... OMIM:253700
Lymphatic Filariasis
Urethral obstruction, Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosino... ORPHA:2035
Bethlem Muscular Dystrophy
Difficulty walking, Lumbar hyperlordosis, Hypoventilation, Elevated circulating creatine kinase c... ORPHA:610
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis, Large for gestational age ORPHA:45452
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Small for gestational age, Failure to t... ORPHA:464311
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Typical absence seizure, Atonic seizure, Seizure, Inability to wal... ORPHA:168491
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Psoriasiform dermatitis, Cachexia, Neutropenia, Tubulointerstitial nephritis, Abnormal blood ion ... ORPHA:37042
Nephrotic Syndrome, Type 8
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Hypoalbuminemia, Se... OMIM:615244
8P23.1 Duplication Syndrome
Hydronephrosis, Highly arched eyebrow ORPHA:251076
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Elevated urine acetoacetic acid level, Spasticity, Alpha-aminoadipic aciduria, Seizure, Gait atax... OMIM:620089
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall... ORPHA:887
Joubert Syndrome With Renal Defect
Nephropathy, Highly arched eyebrow, Abnormal pattern of respiration, Seizure, Apnea, Renal insuff... ORPHA:220497
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Seizure, Myoclonus, Left ventricular hypertrophy, Ataxia, Hepatomegaly, Dystonia, Lact... OMIM:619167
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Seizure, Downslanted palpebral fissures, Abnormali... ORPHA:3253
Kaposiform Lymphangiomatosis
Abnormal form of the vertebral bodies, Pancreatic cysts, Hepatosplenomegaly, Abnormal thoracic sp... ORPHA:464329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Limb dystonia, Hyp... ORPHA:93958
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia... ORPHA:36913
Kleefstra Syndrome
Highly arched eyebrow, Ventriculomegaly, Seizure, Obesity, Vesicoureteral reflux, Renal insuffici... ORPHA:261494
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Telecanthus, Nephrob... ORPHA:314588
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec... OMIM:256050
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Elevated circulating creatine kinase concentration, Follicular hyperkeratosis, Kyphoscoliosis ORPHA:300179
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase c... OMIM:208920
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Ataxia, Focal motor seizure, Choreoathetosis, Episodic hem... ORPHA:2131
Congenital Myopathy 22B, Severe Fetal
Frequent falls, Respiratory distress, Ascites, Downslanted palpebral fissures, Pleural effusion, ... OMIM:620369
Juvenile Polyposis Syndrome
Brain abscess, Anasarca, Failure to thrive, Downslanted palpebral fissures, Hepatic arteriovenous... ORPHA:2929
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Renal agenesis, HbH hemoglobin, Seizure, Kyphoscoliosis, Hydronephrosis, Epicanthus, ... OMIM:301040
Cardiofaciocutaneous Syndrome 3
Webbed neck, Failure to thrive, Seizure, Short neck, Hyperkeratosis, Scoliosis OMIM:615279
Bethlem Myopathy 2
Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration OMIM:616471
Gabriele-De Vries Syndrome
Sparse eyebrow, Lateral ventricle dilatation, Tip-toe gait, Downslanted palpebral fissures, Telec... OMIM:617557
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Seizure, Obesity, Vesicoureteral reflux, Hyperuricemia, P... ORPHA:261222
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Thoracomelic Dysplasia
Short neck, Gait disturbance, Hyperlordosis ORPHA:1803
Koolen-De Vries Syndrome
Ventriculomegaly, Small for gestational age, Failure to thrive, Seizure, Recurrent urinary tract ... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Seizure, Gait ataxia, Tremor, Abdominal obesity, Micropenis, Hypospadias, Kyphosis OMIM:300354
Chromomycosis
Predominantly lower limb lymphedema, Hyperkeratotic papule, Hyperparakeratosis, Lymphedema, Eyeli... ORPHA:182
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Seizure, Generalized non-motor (absence) seizure OMIM:247100
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Ptosis, Hyperalaninemia, Ata... OMIM:619046
Q Fever
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Respiratory distre... ORPHA:781
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Mucopolysacchariduria, Gait disturbance, Hyperl... ORPHA:582
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Kyphosc... ORPHA:99750
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Pulmonary edema, Glo... ORPHA:340
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Waddling gait OMIM:165800
Lamellar Ichthyosis
Renal insufficiency, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Ectropion, Hyperkeratosis, De... ORPHA:313
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Cerebral palsy, Generalized non-motor (absence) seizure,... OMIM:616973
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Slender build, Focal hemiclonic seizure, Epicanthus, Blepharophimosis, Hypospadia... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Slender build, Focal hemiclonic seizure, Epicanthus, Blepharophimosis, Hypospadia... ORPHA:363958
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Low back pain, Weight loss, Elevated circulating C-reactive pr... ORPHA:449400
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Polycythemia, Decre... OMIM:613280
Cystathioninuria
Cystathioninemia, Seizure, Cystathioninuria, Tremor, Nephrolithiasis ORPHA:212
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... ORPHA:90186
Adenylosuccinase Deficiency
Spasticity, Seizure, Elevated urinary succinylaminoimidazole carboxamide riboside level, Hemipleg... OMIM:103050
Coach Syndrome 1
Unilateral renal agenesis, Spasticity, Nephronophthisis, Hepatic fibrosis, Abnormal abdomen morph... OMIM:216360
Diabetic Embryopathy
Vertebral segmentation defect, Hydronephrosis, Renal hypoplasia/aplasia, Hydrocephalus, Micropeni... ORPHA:1926
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Ovoid vertebral bodies ORPHA:63446
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemoly... OMIM:618495
X-Linked Intellectual Disability, Snyder Type
Webbed neck, Involuntary movements, Generalized myoclonic seizure, Sparse eyebrow, Inability to w... ORPHA:3063
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Distichiasis, Scoliosis, Kyphosis ORPHA:2598
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Seizure, Ascites... ORPHA:93552
Trisomy 1Q
Ventriculomegaly, Multicystic kidney dysplasia, Downslanted palpebral fissures, Increased nuchal ... ORPHA:261344
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Loss of ambulation, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:618124
Leptospirosis
Acute kidney injury, Hepatitis, Respiratory distress, Pleural effusion, Elevated serum transamina... ORPHA:509
Alg1-Cdg
Hypoalbuminemia, Decreased liver function, Seizure, Renal insufficiency, Abnormality of the kidne... ORPHA:79327
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Seizure, Hemifacial spasm, Elevated circulating aspar... ORPHA:466677
Glutathionuria
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis OMIM:231950
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Spasticity, Seizure, Inability to walk, Renal ... OMIM:617913
Jaberi-Elahi Syndrome
Broad-based gait, Sparse eyebrow, Kyphosis, Failure to thrive, Inability to walk, Gait ataxia, Ap... OMIM:617988
Spastic Paraplegia 89, Autosomal Recessive
Spastic paraplegia, Functional abnormality of the bladder, Seizure, Febrile seizure (within the a... OMIM:620379
Bronchopulmonary Dysplasia
Small for gestational age, Respiratory distress, Diaphragmatic paralysis, Central apnea, Dyspnea,... ORPHA:70589
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Seizure, Downslanted palpebral fissures, Epicanthus, Ptosis, Micropenis, Kyphosis OMIM:615433
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Short neck, Kyphosis OMIM:618393
Mucopolysaccharidosis, Type X
Platyspondyly, Nephrolithiasis, Left ventricular hypertrophy, Beaking of vertebral bodies, Hyperl... OMIM:619698
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Tetrasomy 15Q26
Downslanted palpebral fissures, Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, Hydrocephalus, ... OMIM:614846
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... OMIM:617810
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Microtriplication 11Q24.1
Speech apraxia, Obesity, Long eyelashes, Hyperlipidemia, Thick eyebrow, Upslanted palpebral fissu... ORPHA:289522
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis ORPHA:79503
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th... OMIM:209950
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Spasticity, Ketonuria, Microcytic anemia, Difficulty walking, 3-... OMIM:251900
Leigh Syndrome
Spasticity, 3-Methylglutaconic aciduria, Neutropenia, Ataxia, Nephrotic syndrome, Choreoathetosis... ORPHA:506
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Ventriculomegaly, Nephronophthisis, Hepatic failure, Ch... OMIM:615630
ERI1-related disease
Platyspondyly, Failure to thrive, Increased vertebral height, Vesicoureteral reflux, Upslanted pa... OMIM:608739
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Myoclonus, Podocyte foot process effacement, Proteinuria, Diffuse... OMIM:619609
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Frequent falls, Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:611588
3C Syndrome
Hypospadias, Ventriculomegaly, Downslanted palpebral fissures, Hydronephrosis, Facial hemangioma,... ORPHA:7
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Apnea, Limb dystonia, Myoclonus, Babinski sign, Ptosis, Limb hy... OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Seizure, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys OMIM:300861
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... OMIM:619913
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Epicanthus, Narrow palpebral fissure, Short palpebral fissure, Down... OMIM:615873
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Apraxia, Scoliosis OMIM:620141
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Seizure, Dilated fourth ventricle, Lumbar hyperlordosis, Elevated circulating c... ORPHA:370959
Moynahan Syndrome
Cachexia, Hyperkeratosis, Seizure ORPHA:2574
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Spastic paraparesis, Downslanted palpebral fissures, Speech apraxia, Ankle clonus, Hy... ORPHA:101000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Obesity, Tremor, Kyphoscoliosis, Parki... ORPHA:3077
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Hepatosplenomegaly, S... ORPHA:93352
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Edema, Splenomegaly, Elevated circulatin... ORPHA:79332
Cartilage-Hair Hypoplasia
Sparse eyebrow, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Failure to thri... ORPHA:175
Kabuki Syndrome
Renal hypoplasia/aplasia, Vertebral clefting, Duplicated collecting system, Hypospadias, Obesity,... ORPHA:2322
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis OMIM:249210
Developmental And Epileptic Encephalopathy 49
Spasticity, Ventriculomegaly, Myoclonic seizure, Long eyelashes, Thick eyebrow, Myoclonus, Tonic ... OMIM:617281
Ritscher-Schinzel Syndrome 1
Downslanted palpebral fissures, Hydronephrosis, Hydrocephalus, Hemivertebrae, Hypospadias, Dandy-... OMIM:220210
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Spastic gait, Resting tremor, Head tremor, Psoriasiform dermatitis, G... ORPHA:458803
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Ventriculomegaly, Respiratory distress, Limb dystonia, Gliosis, Irregular respiration, Hepatomega... OMIM:604377
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Febrile seizure (within the age... ORPHA:477673
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Decreased body mass index, Failure to thrive, Seizure, Tremor, Sparse eyelashes, ... ORPHA:370079
Sandhoff Disease, Infantile Form
Spasticity, Myoclonic seizure, Seizure, Hepatosplenomegaly, Myoclonus, Bilateral tonic-clonic sei... ORPHA:309155
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Hemifacial Atrophy, Progressive
Seizure, Horner syndrome, Blepharophimosis, Ataxia, Kyphosis OMIM:141300
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Seizure, Micro... ORPHA:324737
Leopard Syndrome 3
Webbed neck, Palpebral thickening, Seizure, Downslanted palpebral fissures, Short neck, Hyperkera... OMIM:613707
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Myoclonus, Failure to thrive, Decreased body weight OMIM:619060
Cap Myopathy
Tip-toe gait, Central hypoventilation, Lumbar hyperlordosis, Thoracic scoliosis, Facial palsy, Fr... ORPHA:171881
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral tonic-clonic seizur... ORPHA:457240
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... ORPHA:3202
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Lumbar ... ORPHA:750
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Splenomegaly, Hypocalcemia, Epicanthus, Hypercalciuria, Mucopolysa... OMIM:618440
Carpenter Syndrome 1
Hydroureter, Polysplenia, Obesity, Telecanthus, Underdeveloped supraorbital ridges, Hydronephrosi... OMIM:201000
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Seizure, Abnormality of extrapyramidal motor function OMIM:604218
Kinsship Syndrome
Renal hypoplasia, Ventriculomegaly, Short palpebral fissure, Failure to thrive, Generalized non-m... OMIM:619297
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... OMIM:617106
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Nephrotic syn... OMIM:301108
Odontochondrodysplasia 1
Platyspondyly, Nephronophthisis, Scoliosis, Biconvex vertebral bodies, Respiratory distress, Coro... OMIM:184260
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Lymphedema, Ascites, Splenomegaly, Short... ORPHA:584
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Seizure, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomeg... OMIM:620210
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Sparse eyebrow, Downslanted palpebral fissures, Difficulty walking, Slender bui... ORPHA:457359
Optic Atrophy 11
Ventriculomegaly, Seizure, Facial diplegia, Splenomegaly, Dysmetria, Hyperkinetic movements, Gait... OMIM:617302
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Seizure, Downslanted palpebral fissures, Obesity, Tremor, Epicanthus, Short nec... ORPHA:85293
Beta-Ketothiolase Deficiency
Spasticity, Ketonuria, Edema, Dehydration, Seizure, Thrombocytosis, Leukocytosis, Hyperammonemia,... ORPHA:134
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f... OMIM:251880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Thoracolumbar scoliosis, Fa... OMIM:619503
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hypomimic face, Hepatome... ORPHA:309854
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Respiratory ... ORPHA:537
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Hsd10 Disease, Infantile Type
Poor coordination, Seizure, Hyperammonemia, Abnormality of the lower urinary tract, Hyperkinetic ... ORPHA:391428
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Seizure, Hyposegmentation of neutrophil nuclei, Neutropenia, ... OMIM:169400
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Seizure, Bilateral ptosis, Ak... ORPHA:97349
Presynaptic Congenital Myasthenic Syndromes
Tip-toe gait, Neuropathic spinal arthropathy, Seizure, Difficulty walking, Episodic respiratory d... ORPHA:98914
Congenital Myasthenic Syndrome
Tip-toe gait, Neuropathic spinal arthropathy, Seizure, Difficulty walking, Episodic respiratory d... ORPHA:590
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Ventriculomegaly, Failure to thrive, Seizure, Recurr... OMIM:609029
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Cardiomeg... OMIM:105210
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Platyspondyly, Webbed neck, Highly arched eyebrow, Increased verte... OMIM:620662
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, ... ORPHA:163596
Hyperglycinemia, Lactic Acidosis, And Seizures
Seizure, Apnea, Myoclonus, Cerebral edema, Spastic tetraplegia OMIM:614462
Castleman Disease
Mediastinal lymphadenopathy, Anasarca, Ureteral obstruction, Renal insufficiency, Follicular hype... ORPHA:160
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-clonic s... ORPHA:352582
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Tarp Syndrome
Hepatic failure, Short palpebral fissure, Failure to thrive, Seizure, Horseshoe kidney, Oligohydr... OMIM:311900
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Failure to thrive, Seizure, Frequent falls, Upslanted palpebral fissure, Intrahepa... OMIM:214100
Angelman Syndrome
Broad-based gait, Atonic seizure, Seizure, Inability to walk, Obesity, Infantile spasms, Myoclonu... ORPHA:72
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc... OMIM:276700
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Hyperlordosis, Facial palsy, Waddling gait ORPHA:169186
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Ventriculomegaly, Cervical kyphosis, Functional abnormality of the blad... ORPHA:2953
Shashi-Pena Syndrome
Unilateral renal agenesis, Ventriculomegaly, Highly arched eyebrow, Seizure, Febrile seizure (wit... OMIM:617190
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Spinocerebellar Ataxia 34
Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ... OMIM:133190
Cryptogenic Organizing Pneumonia
Respiratory distress, Leukocytosis, Weight loss, Elevated circulating C-reactive protein concentr... ORPHA:1302
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopeni... OMIM:612541
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Seizure, Obesity, Gait imbalance, Myoclonus, Tremor, Ataxia, Scoliosis ORPHA:98794
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Ventriculomegaly, Abnormal renal collecting system morphology, Hydroureter, Blepharitis, Unilater... ORPHA:280633
Mgat2-Cdg
Failure to thrive, Seizure, Downslanted palpebral fissures, Respiratory distress, Long eyelashes,... ORPHA:79329
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Seizure, Respiratory distress, Hyperammonemia, Hyperglutamatemia, Tachypnea, L... OMIM:237310
Prune Belly Syndrome
Xerostomia, Hydroureter, Oligohydramnios, Hydronephrosis, Congenital posterior urethral valve OMIM:100100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral... OMIM:602557
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Weight ... OMIM:137440
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Hypoplastic cervical vertebrae, Downslanted palpebral fissures, Ichthyosis, Kypho... ORPHA:35173
Orofaciodigital Syndrome Type 3
Spasticity, Stage 5 chronic kidney disease, Myoclonus, Focal seizure with eyelid myoclonia, Oculo... ORPHA:2752
Desbuquois Dysplasia 1
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait OMIM:251450
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Horizontal eyebrow, Chorea, Lumbar hyperlordosis, Almond-shaped palpebral fissure,... ORPHA:522077
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Small for gestational age, Failure to t... ORPHA:464306
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Downslanted palpebral fissures, Ptosis, Hyperlordosis, Hypoplasia of penis, Facial palsy ORPHA:3068
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hy... OMIM:261640
Radio-Renal Syndrome
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Abnormal form of the vertebral bodies,... ORPHA:3015
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatic failure, Failure to thrive, Seizure, Upslanted palpebral fi... ORPHA:912
Spinocerebellar Ataxia 13
Spasticity, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyramidal sign, Progres... OMIM:605259
Glycogen Storage Disease Ii
Urinary incontinence, Difficulty walking, Pleural effusion, Splenomegaly, Diaphragmatic paralysis... OMIM:232300
Congenital Disorder Of Glycosylation, Type Iq
Spasticity, Elevated circulating hepatic transaminase concentration, Failure to thrive, Microcyti... OMIM:612379
Jansen-De Vries Syndrome
Broad-based gait, Hyperlordosis OMIM:617450
Niemann-Pick Disease, Type C1
Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Seizure, Gait ataxia, Splenomegaly,... OMIM:257220
Posttransplant Acute Limbic Encephalitis
Seizure, Myoclonus, Hyponatremia, Ataxia, Dystonia ORPHA:163921
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Weight loss,... ORPHA:3226
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Spasticity, Epicanthus, Short neck, Ataxia, Spastic tetraplegia, Short palpebral fissure, Tip-toe... OMIM:619950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Head tremor, Postural tremor, Gait imbala... ORPHA:64753
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Abnormal cir... OMIM:620375
Cog8-Cdg
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sei... ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Epiblepharon, Thoracolumbar scoliosis, Narrow palpebral fissure, Short palpebral fiss... OMIM:620450
3M Syndrome
Hypospadias, Increased vertebral height, Thick eyebrow, Short neck, Hyperlordosis, Scoliosis, Kyp... ORPHA:2616
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splen... OMIM:618398
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Sc... ORPHA:313892
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Myoclonus, Abnormal pattern of respiration ORPHA:168593
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Developmental And Epileptic Encephalopathy 100
Thoracolumbar kyphosis, Ventriculomegaly, Myoclonic seizure, Typical absence seizure, Short palpe... OMIM:619777
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Seizure, Tremor, Rigidity, Ptosis, Limb hyperton... ORPHA:70594
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... OMIM:606003
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... ORPHA:2199
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto... OMIM:611881
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Progressive spastic paraplegia, Seizure, Hydronephrosis, Aplas... ORPHA:96092
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Ventriculomegaly, Abnormal circulating ceruloplasmin c... OMIM:620306
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Acanthosis... ORPHA:15
Endove Syndrome, Limb-Brain Type
Failure to thrive, Recurrent urinary tract infections, Hydronephrosis, Neurogenic bladder, Focal ... OMIM:619218
Serotonin Syndrome
Acute kidney injury, Hepatic failure, Seizure, Myoclonus, Tremor, Rigidity, Tachypnea, Clonus, Hy... ORPHA:43116
Biotinidase Deficiency
Spastic paraparesis, Organic aciduria, Seizure, Respiratory distress, Apnea, Infantile spasms, Hy... ORPHA:79241
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Ectropion, Pterygium, Renal du... ORPHA:79403
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Palmar hyperkeratosis ORPHA:79399
4Q21 Microdeletion Syndrome
Ventriculomegaly, Seizure, Long eyelashes, Tremor, Short neck, Ptosis, Scoliosis, Kyphosis, Synop... ORPHA:238750
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Tremor, Myoglobinuria, Ataxia, Hemolyti... ORPHA:713
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613157
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Schaaf-Yang Syndrome
Short palpebral fissure, Seizure, Failure to thrive in infancy, Inability to walk, Obesity, Thick... OMIM:615547
Mucopolysaccharidosis, Type Vi
Thickened skin, Hypoplasia of the odontoid process, Seizure, Anterior wedging of L1, Lumbar hyper... OMIM:253200
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Prominent p... ORPHA:2839
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Scoliosis, Prominent supraorbital ridges OMIM:619719
Lymphatic Malformation 6
Facial edema, Webbed neck, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Ascites, ... OMIM:616843
Gitelman Syndrome
Urinary incontinence, Tubulointerstitial nephritis, Renal potassium wasting, Focal segmental glom... ORPHA:358
Mercury Poisoning
Acute kidney injury, Seizure, Respiratory distress, Tremor, Hypokalemia, Dyspnea, Dystonia ORPHA:330021
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Seizure, Horseshoe kidney... OMIM:120330
Joubert Syndrome 33
Oculomotor apraxia, Apnea, Splenomegaly, Ataxia OMIM:617767
Intellectual Disability, Buenos-Aires Type
Cuboid-shaped thoracolumbar vertebral bodies, Downslanted palpebral fissures, Hydronephrosis, Ble... ORPHA:3079
Ataxia-Telangiectasia
Spasticity, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the th... ORPHA:100
Congenital Myopathy 22A, Classic
Frequent falls, Mildly elevated creatine kinase, Downslanted palpebral fissures, Bilateral ptosis... OMIM:620351
Three M Syndrome 3
Increased vertebral height, Decreased body weight, Short neck, Hyperlordosis, Small for gestation... OMIM:614205
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Highly arched eyebrow, Enlarged fossa interpeduncularis, Hemifacia... OMIM:213300
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Keratoconjunctiv... OMIM:617388
Hereditary Hyperekplexia
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia ORPHA:3197
Pyknoachondrogenesis
Webbed neck, Unossified sacrum, Poorly ossified vertebrae, Muscular edema, Palpebral edema ORPHA:3003
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Seizure, Downslanted palpebral fissures, Hepatosplenomegaly, Obesity, Cholecystit... OMIM:301066
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Tachypnea, Hyper... OMIM:239200
12Q14 Microdeletion Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Abnormality of the spleen, Thick eyebrow, ... ORPHA:94063
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Martsolf Syndrome 1
Ventriculomegaly, Downslanted palpebral fissures, Lumbar hyperlordosis, Thoracic scoliosis, Epica... OMIM:212720
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Seizure, Epicanthus, Scoliosis, Kyphosis, Irregular vertebral e... OMIM:234250
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis OMIM:618234
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Failure to thrive, Seizure, Increased nuchal translucency, Vesicoureteral reflux, Pleural effusio... ORPHA:453499
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis OMIM:620014
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Hypomimic face, Ataxia, Bradykinesia, Abnormality of the liver, Cogwheel rigidity... ORPHA:254892
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Developmental And Epileptic Encephalopathy 2
Seizure, Inability to walk, Generalized-onset seizure, Infantile spasms, Myoclonus, Hyperventilat... OMIM:300672
Pycnodysostosis
Spondylolysis, Hepatosplenomegaly, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfuncti... ORPHA:763
Colchicine Poisoning
Oliguria, Hypomagnesemia, Respiratory distress, Renal insufficiency, Leukocytosis, Hypocalcemia, ... ORPHA:31824
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Cholestasis, Acute hepatic failure, Hepatic steatosis, Loss of ambulation, Cirr... OMIM:256810
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Difficulty w... ORPHA:199343
Myopathy, Scapulohumeroperoneal
Facial palsy, Scoliosis, Hyperlordosis OMIM:616852
X-Linked Cerebral Adrenoleukodystrophy
Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis, Ankle clo... ORPHA:139396
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly OMIM:212360
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, Dyspnea, Abnormali... ORPHA:75563
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Stiff Person Spectrum Disorder
Falls, Difficulty walking, Lumbar hyperlordosis, Rigidity, Exaggerated startle response ORPHA:3198
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Convulsive status epilepticus, Spasticity, Stomatocytosis, Seizure, Inability to walk, Polyhydram... OMIM:608885
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Upslanted palpebral fissure, Cachexia, Aplasia/Hypoplasi... ORPHA:1133
Mucopolysaccharidosis, Type Ii
Seizure, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excret... OMIM:309900
Mucopolysaccharidosis, Type Iiia
Seizure, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Hepatom... OMIM:252900
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Micropenis, Hypo... OMIM:300219
Coccidioidomycosis
Granuloma, Abnormality of the vertebral column, Seizure, Respiratory distress, Abnormality of the... ORPHA:228123
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Sparse eyebrow, Seizure, Downslanted palpebral fissures, Large for gestational ... OMIM:617011
Webb-Dattani Syndrome
Spasticity, Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Bi... OMIM:615926
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... ORPHA:141083
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Hyperkeratosis, Absent eyebrow OMIM:618625
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Seizure ORPHA:89844
Hypochondroplasia
Lumbar hyperlordosis, Acanthosis nigricans, Widened interpedicular distance OMIM:146000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum, Waddling gait OMIM:271650
Pseudo-Torch Syndrome 1
Spasticity, Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Failure to... OMIM:251290
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, D... ORPHA:231401
Sialuria
Seizure, Splenomegaly, Epicanthus, Increased level of N-acetylneuraminic acid in urine, Hepatomeg... OMIM:269921
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Broad-based gait, Seizure, Respiratory distress, Telecanthus, Upslanted palpebral fissure... ORPHA:438216
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Difficulty walking, Obesity, Oligohydramnios, Vesicoureteral reflux, Hydro... OMIM:618653
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Hypospadias, Kyphosis ORPHA:1548
Classical Ehlers-Danlos Syndrome
Dermatochalasis, Blepharochalasis, Joint swelling, Bladder diverticulum, Epicanthus, Scoliosis ORPHA:287
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Epicanthus, Abnormal form of the vertebral bodies ORPHA:2831
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Rett Syndrome
Spasticity, Seizure, Apnea, Gait ataxia, Intermittent hyperventilation, Cachexia, Gait apraxia, T... OMIM:312750
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Infantile Krabbe Disease
Spasticity, Failure to thrive, Seizure, Respiratory distress, Myoclonus, Ankle clonus, Opisthoton... ORPHA:206436
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Craniofacial dystonia, Diaphragmatic paralysis, Fr... OMIM:620011
Alzheimer Disease 3
Seizure, Spastic tetraparesis, Myoclonus, Abnormality of extrapyramidal motor function, Babinski ... OMIM:607822
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Conjunctival hamartoma, Weight loss, Hyperkeratosis, Congen... ORPHA:312
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Seizure, Lymphadenopathy, Thrombocytop... OMIM:618048
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Failure to thrive, Tetraparesis, Pancytopenia, Distal renal tubular ... ORPHA:2785
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Seizure, Respiratory distress, Ascites, Apnea, Pleural effusion, Peripheral edema, Card... OMIM:261740
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Farber Lipogranulomatosis
Failure to thrive, Joint swelling, Splenomegaly, Lipogranulomatosis, Hepatomegaly OMIM:228000
Early Infantile Epileptic Encephalopathy
Spasticity, Ureterocele, Renal dysplasia, Episodic ataxia, Failure to thrive, Generalized non-mot... ORPHA:1934
Mcdonough Syndrome
Short palpebral fissure, Prominent supraorbital ridges, Cachexia, Ptosis, Scoliosis, Kyphosis, Sy... ORPHA:2471
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Platyspondyly, Progressive ... OMIM:225400
Thanatophoric Dysplasia Type 1
Platyspondyly, Ventriculomegaly, Seizure, Increased nuchal translucency, Abnormal sacroiliac join... ORPHA:1860
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Seizure... ORPHA:550
Zimmermann-Laband Syndrome 3
Long eyelashes, Thick eyebrow, Kyphosis, Synophrys OMIM:618658
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells ORPHA:75233
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Back pain ORPHA:56425
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Kyphoscoliosis, Bladder diverticulum, Epicanthus, Follicular hyperkerat... OMIM:614557
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Respiratory distress... OMIM:183900
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Epicanthus, Short neck, Hepatoblastoma, Hepatomegaly, Hypospadias, ... ORPHA:373
Cocaine Intoxication
Acute kidney injury, Involuntary movements, Seizure, Respiratory distress, Atypical absence statu... ORPHA:90068
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Ullrich Congenital Muscular Dystrophy
Frequent falls, Elevated circulating creatine kinase concentration, Short neck, Torticollis, Scol... ORPHA:75840
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Seizure... ORPHA:223
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Spondylolysis, Tip-toe gait, Seizure, Lumbar h... ORPHA:2614
Mucopolysaccharidosis, Type Iiic
Seizure, Heparan sulfate excretion in urine, Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar ve... OMIM:252930
Intellectual Developmental Disorder, Autosomal Dominant 52
Seizure, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Overweight, Sma... OMIM:617796
Cartilage-Hair Hypoplasia
Sparse eyebrow, Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Macrocytic... OMIM:250250
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Mucopolysaccharidosis, Type Iiib
Seizure, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vert... OMIM:252920
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Overweight, Scoliosis, Mildly elevated creatine kinase, Spinal rigidity ORPHA:486815
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Failure to thrive, Seizure, Generalized-onset seizure, Apnea, Rigidity, Abnorma... OMIM:617527
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Infantile spasms, Elevated ... OMIM:618733
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:607876
Carey-Fineman-Ziter Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Glandular hypospadias, Hydronephrosis, Epicanth... ORPHA:1358
Epilepsy, Progressive Myoclonic, 10
Spasticity, Generalized myoclonic seizure, Seizure, Myoclonus, Spastic ataxia, Ataxia, Urinary in... OMIM:616640
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Upslanted palpebral fissure, Hydronephrosis... ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... OMIM:617798
Autosomal Recessive Spastic Paraplegia Type 35
Enuresis nocturna, Spastic paraplegia, Kyphosis, Generalized dystonia, Frequent falls, Difficulty... ORPHA:171629
Joubert Syndrome
Highly arched eyebrow, Abnormal form of the vertebral bodies, Abnormal pattern of respiration, Se... ORPHA:475
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Williams Syndrome
Spasticity, Epicanthus, Blepharophimosis, Ataxia, Periorbital edema, Involuntary movements, Chole... ORPHA:904
Granulomatosis With Polyangiitis
Ureteral stenosis, Seizure, Hemiplegia, Renal insufficiency, Hematuria, Proteinuria, Glomerulopat... ORPHA:900
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Decreased circulating ferritin concentrati... OMIM:606159
Prolidase Deficiency
Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Elevated circul... OMIM:170100
Auriculocondylar Syndrome 2A
Respiratory distress, Ptosis, Apnea OMIM:614669
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Epicanthus, Elevated circulating alanine aminotransferase concentration, Hepato... OMIM:280000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Seizure, Elevated circulating creatinine concentration, Renal i... ORPHA:79233
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Griscelli Syndrome Type 2
Hemophagocytosis, Seizure, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropen... ORPHA:79477
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Follicular hyperkeratosis, Scoliosis, Spinal rigidity OMIM:617066
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Seizure, Hypercalcemia, Gait ataxia, Tremor, Epicanthus, Congenital ptosis, Ur... ORPHA:476126
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Decreased liver function, Seizure, Apnea, Myoclonus, Hyperglycinemia, Infantil... OMIM:620423
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Eversion of lateral third of lower eyelids, Decreased circulating iron concentration, Involuntary... ORPHA:438213
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Ventriculomegaly, Short palpebral fissure, Seizure, Respiratory distress, Hydronephrosis, Dandy-W... OMIM:300968
Dubowitz Syndrome
Scoliosis, Sparse lateral eyebrow, Seizure, Telecanthus, Underdeveloped supraorbital ridges, Hydr... ORPHA:235
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Xerostomia, Seizure, Leukopenia, Splenomegaly, Joint sw... ORPHA:809
Idiopathic Hypereosinophilic Syndrome
Angioedema, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Por... ORPHA:3260
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlordosis, Scoliosis OMIM:184250
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Ventriculomegaly, Respiratory distress, Splenic cyst, Polyhydramnios, ... OMIM:618188
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Ventriculomegaly, Kyphosis, Seizure, Difficu... OMIM:618476
Hurler-Scheie Syndrome
Thickened skin, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in u... OMIM:607015
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Falls, Seizure, Tremor, Low back pain, Babinski sign, Abnormal pyramidal sign, Urin... ORPHA:447753
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis ORPHA:317
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Abnormal circulating creatine kinase concentration, Kyphoscoliosis, Weakness of facial ... OMIM:618484
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Multiple Osteochondromas
Urinary retention, Neuropathic spinal arthropathy ORPHA:321
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Platyspondyly, Biconvex vertebral bodies, Vertebral wedging, Lumba... ORPHA:93315
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Methylmalonic acidemia, Hom... OMIM:277400
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Elevated circulating creatine kinase concentration, Ptosis, Dyspnea, Facial pals... OMIM:615084
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Seizure, Hepatic stea... ORPHA:300536
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Difficulty walking, Myoclonus, Upper motor neuron dysfunction, ... ORPHA:306674
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Lateral ventricle dilatation, Central apnea, Polyhydramnios, Spina bifida occul... OMIM:618291
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... ORPHA:53035
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Short neck, Polyhydramnios, C... ORPHA:1427
Netherton Syndrome
Sparse eyebrow, Failure to thrive, Angioedema, Hypernatremic dehydration, Hypereosinophilia, Para... OMIM:256500
Scrub Typhus
Seizure, Renal insufficiency, Splenomegaly, Tremor, Lymphadenopathy, Dyspnea ORPHA:83317
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... OMIM:226990
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Winchester Syndrome
Kyphosis OMIM:277950
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Lymphedema, Seizure, Renal insufficiency, ... ORPHA:324
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Cronkhite-Canada Syndrome
Seizure, Lymphedema, Splenomegaly, Hepatomegaly, Cachexia, Aplasia/Hypoplasia of the eyebrow, Anemia ORPHA:2930
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Myoclonic seizure, Fasciculations, Tremor, Hydronephrosis, Limb hypertonia, Exaggerated startle r... OMIM:620327
Fryns Syndrome
Multicystic kidney dysplasia, Ventriculomegaly, Seizure, Vesicoureteral reflux, Hydronephrosis, S... ORPHA:2059
Micro Syndrome
Spasticity, Kyphosis, Seizure, Hydronephrosis, Abnormal localization of kidney, Scoliosis, Hypopl... ORPHA:2510
Arthrogryposis, Distal, Type 5
Epicanthus, Ptosis, Exertional dyspnea, Blepharophimosis, Hypertonia, Scoliosis, Kyphosis OMIM:108145
Synaptic Congenital Myasthenic Syndromes
Frequent falls, Respiratory distress, Bilateral ptosis, Hypoventilation, Ptosis, Exertional dyspn... ORPHA:98915
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll... OMIM:603909
Harlequin Ichthyosis
Congenital ichthyosiform erythroderma, Ichthyosis, Ectropion, Hyperkeratosis, Dehydration ORPHA:457
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Plaa-Associated Neurodevelopmental Disorder
Ventriculomegaly, Failure to thrive, Seizure, Apnea, Rigidity, Abnormality of extrapyramidal moto... ORPHA:521426
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis ORPHA:38
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Seizure, Dysmetria, Tremor, Multifocal seizures, Limb hypertonia, Hypertonia, A... OMIM:617710
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Apnea, Myoclonus, Seizure OMIM:619814
Marinesco-Sjogren Syndrome
Spasticity, Failure to thrive, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase con... OMIM:248800
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Macrocytic anemia, Epicanth... OMIM:606164
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Acanthosis nigricans, Hypercho... OMIM:612526
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Highly arched eyebrow, Leukemia, Downslanted palpebral fissures, Vesic... OMIM:619951
Proteasome-Associated Autoinflammatory Syndrome 3
Periorbital edema, Elevated circulating hepatic transaminase concentration, Failure to thrive, Ly... OMIM:617591
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Downslanted palpebral fissures, Ureteral triplication, Hydronephrosis, Epicanthus, Ptosis, Hydroc... OMIM:104350
19P13.12 Microdeletion Syndrome
Hypospadias, Ventriculomegaly, Seizure, Obesity, Hyperlipidemia, Hepatic steatosis, Epicanthus, S... ORPHA:254346
Alpha-Mannosidosis
Splenomegaly, Prominent supraorbital ridges, Short neck, Hepatomegaly, Scoliosis, Kyphosis ORPHA:61
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis, Seizure OMIM:617768
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Polyhydramnios, Splenomegaly, Epicanthus, Hepatom... OMIM:618541
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Lumbar hyperlordosis, Obesity, Irregular vertebral ... ORPHA:174
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Oligohydramnios, Sple... ORPHA:525731
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Anaplastic Thyroid Carcinoma
Respiratory distress, Weight loss, Vocal cord paralysis, Lymphadenopathy, Dyspnea ORPHA:142
Niemann-Pick Disease, Type C2
Spasticity, Fetal ascites, Cataplexy, Sea-blue histiocytosis, Seizure, Polyhydramnios, Splenomega... OMIM:607625
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Exe... ORPHA:90037
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Seizure, Difficulty w... ORPHA:90321
Au-Kline Syndrome
Chronic kidney disease, Ventriculomegaly, Dilatation of the renal pelvis, Failure to thrive, Spar... OMIM:616580
Spondyloenchondrodysplasia
Chronic kidney disease, Platyspondyly, Spasticity, Ventriculomegaly, Granuloma, Hepatitis, Seizur... ORPHA:1855
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Facial capillary hemangioma, Renal hypoplasia/aplasia, Epicanthus, ... ORPHA:818
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Ventriculomegaly, Horizontal eyebrow, Seizure, Obesity, L... ORPHA:96121
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis ORPHA:505
Hyperlysinemia
Poor motor coordination, Hyperlysinuria, Hypoornithinemia, Tip-toe gait, Failure to thrive, Seizu... ORPHA:2203
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Failure to thrive, Sandwich appearance of vertebral bodies, Seizure, Pancytopen... OMIM:259700
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Atlantoaxial dislocation, Thin skin, Congenital kyphoscoliosis, Seizure, Respirato... ORPHA:536467
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Conjunctivitis, Splenomegaly, Ichthyosis, Hepatomegaly, Anemia, N... ORPHA:575
Achondroplasia
Respiratory distress, Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Severe plat... OMIM:100800
Sialuria
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Seizure, Hepatosplenomeg... ORPHA:3166
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Ichthyosis, Sparse eyelashes, Aca... ORPHA:59303
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Lumbar hyperlordosis, Steppage gait, Scoliosis OMIM:601152
Aicardi-Goutieres Syndrome 7
Tetraparesis, Pancytopenia, Hepatic steatosis, Weight loss, Tetraplegia, Hepatomegaly, Nephrotic ... OMIM:615846
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenosis, Thick ... OMIM:616007
Waldenström Macroglobulinemia
Normocytic anemia, Periorbital edema, Renal insufficiency, Splenomegaly, Pleural effusion, Hepato... ORPHA:33226
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Failure to thrive, Respiratory distress, Thin eyebrow, Telecanthus, Upsl... ORPHA:2707
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Hydrocephalus, Scoliosis, Kyphosis ORPHA:2181
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Respiratory distress, Disc-like vertebral bodies, Short neck, Severe plat... OMIM:151210
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Sparse eyebrow, Orthokeratosis, Cholestasis, Portal hypertensi... OMIM:607626
Chilblain Lupus
Chronic myelomonocytic leukemia, Hyperkeratosis ORPHA:90280
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Seizure, Pericardial effusion, Oligohydramnios, T... ORPHA:79328
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Seizure, Obesity, Gait ataxia,... ORPHA:75857
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Epicanthus, Short neck, Pt... ORPHA:2789
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protei... ORPHA:1451
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Gait disturbance, Kyphosis ORPHA:1875
Schinzel-Giedion Syndrome
Spasticity, Abnormality of the ureter, Short neck, Hepatoblastoma, Hypospadias, Sacrococcygeal te... ORPHA:798
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis, Oculomotor apraxia, Scoliosis, Kyphosis ORPHA:3454
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Seizure ORPHA:3019
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Lumbar hyperlordosis, Irregular vertebral endplates, Scoliosis, Waddling gait OMIM:156500
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis, Kyphoscoliosis OMIM:618339
Schinzel-Giedion Midface Retraction Syndrome
Ventriculomegaly, Hydroureter, Failure to thrive, Ureteral stenosis, Seizure, Hydronephrosis, Opi... OMIM:269150
Slc35A1-Cdg
Giant platelets, Respiratory distress, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Intellectual Developmental Disorder, Autosomal Dominant 29
Short palpebral fissure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:616078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... OMIM:194380
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Obesity, Upslanted palpebral fissure, Epicanthus, Short neck, Hypoplas... ORPHA:3409
Noonan Syndrome 10
Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Increased nuchal translucency, Pleur... OMIM:616564
Prolidase Deficiency
Palmoplantar keratoderma, Splenomegaly, Recurrent cystitis, Hepatomegaly, Hyperkeratosis, Thin skin ORPHA:742
Secondary Syringomyelia
Facial paralysis, Seizure, Pseudobulbar paralysis, Difficulty walking, Paraplegia, Dysuria, Back ... ORPHA:99857
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Kyphoscoliosis, Epicanthus, Short neck, Ptosis, Thoracolumbar scoliosis, Sc... OMIM:114300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ataxia, Tongue fasciculations, Spasticity, Hepatic failure, Failure to thrive, Apnea, 3-hydroxydi... OMIM:252010
Mucopolysaccharidosis Type 6
Failure to thrive, Splenomegaly, Short neck, Mucopolysacchariduria, Kyphosis, Ovoid vertebral bodies ORPHA:583
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Polyhydramnios, Facial diplegia OMIM:160900
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Congenital Myopathy 17
Renal hypoplasia, Downslanted palpebral fissures, Failure to thrive in infancy, Telecanthus, Uret... OMIM:618975
1Q21.1 Microdeletion Syndrome
Failure to thrive, Seizure, Vesicoureteral reflux, Hydronephrosis, Epicanthus, Hydrocephalus, Sco... ORPHA:250989
Cerebellar-Facial-Dental Syndrome
Ventriculomegaly, Sparse eyebrow, Failure to thrive, Ureteropelvic junction obstruction, Hydronep... ORPHA:444072
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Webbed neck, Abnormality of the palpebral fissures, Short neck, Scoliosis, Kyphosis ORPHA:178148
Jacobsen Syndrome
Bone marrow hypocellularity, Multicystic kidney dysplasia, Ventriculomegaly, Annular pancreas, Ab... ORPHA:2308
Refsum Disease
Renal insufficiency, Splenomegaly, Hemiplegia/hemiparesis, Ichthyosis, Abnormal pyramidal sign, P... ORPHA:773
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Spastic tetraplegia, Seizure, Ichthyosis, Limb hypertonia, Congenital nonbullous ichthyosiform er... OMIM:614457
Kyphoscoliotic Ehlers-Danlos Syndrome
Atlantoaxial instability, Congenital kyphoscoliosis, Downslanted palpebral fissures, Difficulty w... ORPHA:536545
Succinic Acidemia
Respiratory distress OMIM:600335
Pituitary Adenoma 4, Acth-Secreting
Obesity, Biconcave vertebral bodies, Nephrolithiasis, Hypokalemia, Abdominal obesity, Vertebral c... OMIM:219090
D-Bifunctional Protein Deficiency
Ventriculomegaly, Fetal ascites, Elevated circulating hepatic transaminase concentration, Increas... OMIM:261515
Gaucher Disease
Pancytopenia, Hematuria, Cirrhosis, Ataxia, Hepatomegaly, Elevated circulating C-reactive protein... ORPHA:355
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Failure to thrive, Respiratory distress, Facial hypotonia, Elevated circulati... ORPHA:308552
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosifo... OMIM:613576
Hyperekplexia 3
Apnea, Myoclonus, Bilateral tonic-clonic seizure, Hypertonia, Exaggerated startle response OMIM:614618
15Q24 Microdeletion Syndrome
Hypospadias, Small for gestational age, Failure to thrive, Microphallus, Downslanted palpebral fi... ORPHA:94065
15Q Overgrowth Syndrome
Ureterovesical stenosis, Seizure, Downslanted palpebral fissures, Horseshoe kidney, Telecanthus, ... ORPHA:314585
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Thakker-Donnai Syndrome
Webbed neck, Upslanted palpebral fissure, Hydronephrosis, Cervical C2/C3 vertebral fusion, Short ... ORPHA:1780
Severe Acute Respiratory Syndrome
Respiratory distress, Acute kidney injury, Dyspnea ORPHA:140896
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Bradykinesia, Abnormal circula... ORPHA:199351
Biotinidase Deficiency
Organic aciduria, Seizure, Apnea, Splenomegaly, Hyperammonemia, Tachypnea, Ataxia, Hepatomegaly, ... OMIM:253260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... OMIM:184100
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis, Recurrent urinary tract infections, Lumbar hyperlordosis, Upslanted palpebra... OMIM:619234
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Ventriculomegaly, Annular pancreas, Seizure, Downslanted palpebral fissures, Lumbar ... OMIM:616975
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Melnick-Needles Syndrome
Anisospondyly, Vesicoureteral reflux, Prominent supraorbital ridges, Hydronephrosis, Scoliosis ORPHA:2484
Stevens-Johnson Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati... ORPHA:36426
Congenital Erythropoietic Porphyria
Thickened skin, Reduced haptoglobin level, Keratoconjunctivitis, Poikilocytosis, Unconjugated hyp... ORPHA:79277
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Hypopnea, Failure to thrive, Seizure, Respiratory distress, Apnea, Myoclonus, Hypokal... OMIM:618426
Hyperekplexia 1
Seizure, Apnea, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent... OMIM:149400
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Abnormal eyebrow morphology, Telecanthus, Hydronephrosis, Ptosis ORPHA:2496
Hurler Syndrome
Hypoplasia of the odontoid process, Bilateral ptosis, Heparan sulfate excretion in urine, Hepatos... OMIM:607014
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Seizure, Thick eyebrow, Decreased body weight, Hyperkinetic movements, Photosensitive tonic-cloni... OMIM:300243
Fryns Syndrome
Ectopic pancreatic tissue, Chylothorax, Renal agenesis, Polysplenia, Seizure, Large for gestation... OMIM:229850
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Seizure, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:616084
Biliary, Renal, Neurologic, And Skeletal Syndrome
Spasticity, Dilatation of the renal pelvis, Lateral ventricle dilatation, Cholestasis, Dark urine... OMIM:619534
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elevated circulating creatine kinase concentration, Kyphosis, Seizure, Waddling gait OMIM:618138
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Downslanted palpebral fissures, Respira... ORPHA:83617
Leukodystrophy, Hypomyelinating, 10
Spasticity, Prominent eyelashes, Failure to thrive, Seizure, Downslanted palpebral fissures, Inab... OMIM:616420
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... OMIM:617052
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Azoospermia, Splenomegaly, He... OMIM:615234
Campomelic Dysplasia
Short palpebral fissure, Cervical kyphosis, Hypoplastic cervical vertebrae, Failure to thrive, Se... OMIM:114290
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:284426
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen... ORPHA:264675
Costello Syndrome
Failure to thrive in infancy, Epicanthus, Short neck, Acanthosis nigricans, Polyhydramnios, Hyper... ORPHA:3071
American Trypanosomiasis
Periorbital edema, Splenomegaly, Hepatomegaly, Lymphadenopathy, Dyspnea, Edema ORPHA:3386
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyebrow, Blepharitis, Hydroureter, Renal agenesis, Ureterocele, Xerostomia, Telecanthus, V... OMIM:129900
Nail-Patella Syndrome
Lumbar hyperlordosis, Renal insufficiency, Hematuria, Proteinuria, Ptosis, Glomerulonephritis, An... OMIM:161200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Seizure OMIM:619466
Acute Generalized Exanthematous Pustulosis
Facial edema, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insuffi... ORPHA:293173
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal blood ... OMIM:615522
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Ptosis, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Seizure, Downslanted palpebral fissures, Lumbar hyperlordosis, Short neck, Lowe... ORPHA:251028
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Seizure, Large for gestation... ORPHA:263455
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Ileal Neuroendocrine Tumor
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Iron de... ORPHA:100078
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Hydronephrosis, Short neck, Urethral a... OMIM:271520
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... OMIM:620454
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Renal hypoplasia, Ventriculomegaly, Lacrimal duct aplasia, Microphallus, S... OMIM:618454
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Weight... ORPHA:94080
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Scoliosis, Hyperlordosis, Vertebral segmentation defect ORPHA:1323
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Seizure, Hydronephrosis, Epicanthus, Ptosis, Lacrimal duct stenosis, Dystonia ORPHA:457193
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Seizure, Myoclonus, Gait ataxia, Dysmetria, Weakness of facial musculature, Bab... OMIM:607459
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Renal agenesis, Polysplenia, Abdominal situs inversus, Re... OMIM:306955
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Prader-Willi Syndrome
Ventriculomegaly, Edema, Class III obesity, Seizure, Failure to thrive in infancy, Obesity, Oligo... OMIM:176270
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Annular pancreas, Respiratory distress, Absent gallbladder, Hydron... ORPHA:210122
9P13 Microdeletion Syndrome
Highly arched eyebrow, Hand tremor, Thick eyebrow, Myoclonus, Epicanthus, Scoliosis ORPHA:324313
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like... ORPHA:189
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Highly arched eyebrow, Abnormal pattern of respiration, Seizure, A... ORPHA:220493
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Three M Syndrome 2
Short neck, Small for gestational age, Hyperlordosis, Lumbar hyperlordosis OMIM:612921
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Renal tubular dysfu... OMIM:616539
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Beaking of vertebral bodies, Scoliosis, Irregular vertebral ... OMIM:609616
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... ORPHA:30391
Trichohepatoenteric Syndrome 1
Cholestasis, Underdeveloped supraorbital ridges, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, ... OMIM:222470
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Platyspondyly, Difficulty walking, Thoracic platyspondyly, Kyphoscoliosis, Epicanthus, Short neck... ORPHA:457395
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Hepatic steatosis, Epicanthus, Cirrhosis, Duplicated collecting syst... OMIM:270400
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Epicanthus, Abnormality of the kidney, Hypospadias,... ORPHA:1606
Ruvalcaba Syndrome
Seizure, Downslanted palpebral fissures, Abnormal vertebral epiphysis morphology, Hematuria, Ptos... ORPHA:3121
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Pachydermoperiostosis
Thickened skin, Palmoplantar keratoderma, Cerebral palsy, Splenomegaly, Joint swelling, Hepatomeg... ORPHA:2796
Eec Syndrome
Sparse eyebrow, Xerostomia, Thick eyebrow, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydro... ORPHA:1896
Donohue Syndrome
Hepatic fibrosis, Long penis, Cholestasis, Pancreatic islet-cell hyperplasia, Severe failure to t... OMIM:246200
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Biliary tract abnormality, Epicanthus, Short n... ORPHA:3191
3Mc Syndrome
Highly arched eyebrow, Caudal appendage, Downslanted palpebral fissures, Telecanthus, Prominent c... ORPHA:293843
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Spasticity, Intraalveolar phospholipid accumulation, Hepatitis... OMIM:620565
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Short neck, Ptosis, Hyperlordosis, Scoliosis, Lagophthalmos OMIM:615065
Hereditary Mucoepithelial Dysplasia
Hematuria, Abnormality of the bladder, Hyperkeratosis ORPHA:1839
White Sponge Nevus 2
Hyperparakeratosis, Edema OMIM:615785
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Decreased liver function, Increased circulating fer... ORPHA:158061
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Nasolacrimal duct obstruction ORPHA:3218
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Increased vertebral h... OMIM:248500
Fountain Syndrome
Facial edema, Abnormal form of the vertebral bodies, Seizure, Thick eyebrow, Epicanthus, Ptosis, ... ORPHA:3219
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Odontochondrodysplasia
Respiratory distress, Platyspondyly, Scoliosis ORPHA:166272
Tetrasomy 5P
Failure to thrive, Seizure, Respiratory distress, Upslanted palpebral fissure, Epicanthus, Short ... ORPHA:3309
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Thick eyebrow, Hyperlordosis, Elevated urinary epinephrine level, S... OMIM:162300
Tetraploidy
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia ORPHA:3305
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Myoglobinuria, Urinary incontinence, Hyperkalemia, Acute kidney injury, Chorea... ORPHA:94093
Pfeiffer Syndrome Type 3
Seizure, Respiratory distress, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Aqueducta... ORPHA:93260
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Multiple Sulfatase Deficiency
Seizure, Thick eyebrow, Splenomegaly, Ichthyosis, Mucopolysacchariduria, Hydrocephalus, Hepatomegaly ORPHA:585
Hypomelanosis Of Ito
Epicanthus, Scoliosis, Kyphosis, Seizure OMIM:300337
Porphyria, Congenital Erythropoietic
Thickened skin, Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, ... OMIM:263700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Seizure, Recurrent urinary tract infections, Telecanthus, Abnormal hemoglobin... ORPHA:847
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... ORPHA:94068
Rubinstein-Taybi Syndrome 1
Incoordination, Epicanthus, Leukemia, Unsteady gait, Hypospadias, Downslanted palpebral fissures,... OMIM:180849
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Epicanthus, Hyperkeratosis, Pedal edema ORPHA:79452
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Lafora Disease
Spasticity, Hepatic failure, Generalized myoclonic seizure, Atonic seizure, Focal sensory seizure... ORPHA:501
Esophageal Atresia
Abnormal vertebral morphology, Vocal cord paresis, Abnormality of the urinary system, Renal agene... ORPHA:1199
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Keratoderma Hereditarium Mutilans
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis ORPHA:494
Xeroderma Pigmentosum
Aminoaciduria, Thickened skin, Spasticity, Ankyloblepharon, Failure to thrive, Seizure, Pterygium... ORPHA:910
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response,... OMIM:609541
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Hepatomegaly, Dilated fourth ventricle, Stage 5 chronic kidne... OMIM:243910
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Re... ORPHA:959
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Abnormal pattern of respiration, Hypomagnesemia, Hypocalcemi... ORPHA:428
Acquired Methemoglobinemia
Respiratory distress, Methemoglobinemia, Dyspnea, Seizure ORPHA:464453
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, E... ORPHA:1225
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation, Me... ORPHA:91359
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Poor motor coordination, Ventriculomegaly, Seizure, Ch... ORPHA:25
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Paralysis, Ectr... OMIM:242100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Waddling gait OMIM:608728
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Hemidystonia, Short palpebral fissure, Seizure, Speech apraxia, Obesity, Upsla... OMIM:619680
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Webbed neck, Failure to thrive, Downslanted palpebral fissures, Large for gestational age, Long e... OMIM:607721
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... OMIM:602481
Gerstmann-Straussler-Scheinker Syndrome
Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function ORPHA:356
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Sparse eyebrow, Downslanted palpebral fissures, Ptosis, Lacrimal du... ORPHA:73246
Perry Syndrome
Short stepped shuffling gait, Central hypoventilation, Akinesia, Hypoventilation, Rigidity, Dysto... OMIM:168605
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Cervical lymphadenopathy, Elevated urinary vanillylmandeli... ORPHA:653
Poems Syndrome
Thickened skin, Visceromegaly, Polycythemia, Ascites, Sclerotic vertebral endplates, Pleural effu... ORPHA:2905
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Lumbar hyperlordosis ORPHA:2848
Clark-Baraitser syndrome
Seizure, Downslanted palpebral fissures, Obesity, Heavy supraorbital ridges, Scoliosis, Kyphosis OMIM:300602
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to PTH administration, Hyp... ORPHA:79444
Cockayne Syndrome Type 2
Difficulty walking, Lower limb spasticity, Limb hypertonia, Gait disturbance, Ataxia, Hepatomegal... ORPHA:90322
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Substantia nigra gliosi... OMIM:168600
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Gait disturbance, Thrombocytope... ORPHA:77261
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Polyhydramnios, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Downslanted palpebral fissures, Failu... ORPHA:96149
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Failure to thrive, Seizure, Oligohydramnios, Hyperammonemia, Tremor, 3... OMIM:614052
Macrocephaly/Autism Syndrome
Speech apraxia, Lymphopenia, Penile freckling, Obesity, Splenomegaly, Large for gestational age, ... OMIM:605309
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema, Degeneration of anterior horn cells OMIM:271225
Chediak-Higashi Syndrome
Hemophagocytosis, Seizure, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Hepatomeg... OMIM:214500
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Downslanted palpebral fissures, Abnormal mesentery mor... ORPHA:2075
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Ascites, Hydronephrosis, Hypoplasia of the thymus... OMIM:613177
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Myoclonic spasms, Hypoc... ORPHA:94090
Wiedemann-Rautenstrauch Syndrome
Spasticity, Slender build, Action tremor, Hepatic steatosis, Ataxia, Hypospadias, Irregular scler... ORPHA:3455
Mednik Syndrome
Intrahepatic cholestasis, Ichthyosis, Decreased circulating ceruloplasmin concentration, Decrease... ORPHA:171851
Kabuki Syndrome 1
Abnormal vertebral morphology, Highly arched eyebrow, Sparse eyebrow, Scoliosis, Focal impaired a... OMIM:147920
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Renal hyp... ORPHA:2973
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms, Inability to walk OMIM:618374
Pseudohypoparathyroidism Type 1A
Involuntary movements, Hyperphosphatemia, Laryngeal dystonia, Low urinary cyclic AMP response to ... ORPHA:79443
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Failure to thrive, Keratoconjunctivitis sicca, Aplasia/Hypoplasia of the eyebrow, Nep... ORPHA:238468
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Cholelithiasis, Resting tremor, Abnormality of the vertebral spi... ORPHA:909
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis, Hyperkeratosis ORPHA:1883
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... OMIM:219800
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Thickened skin, Red-brown urine, Purple urine, Erythroid hyperplasia, Ab... ORPHA:95159
Kniest Dysplasia
Platyspondyly, Respiratory distress, Short neck, Lumbar kyphoscoliosis, Gait disturbance, Coronal... OMIM:156550
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Seizure, Epicanthus, Short neck, Ptosis, Blepharophimosis, Micrope... OMIM:248700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ventriculomegaly, Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigidity, Torticollis, Ataxia... OMIM:617186
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Increased nuchal translucency, Kyphosis ORPHA:77300
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Respiratory distress, Difficulty walking, Tachypnea, Ataxia, Dystonia, Choreoat... OMIM:610978
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Orthokeratosis, Congenital ichthyosiform erythroderma, Elevated 8(9)-c... OMIM:308050
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Flynn-Aird Syndrome
Seizure, Cachexia, Ataxia, Scoliosis, Kyphosis ORPHA:2047
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Seizure, D... ORPHA:2750
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Sparse eyebrow, Failure to thrive, Seizure, Ichthyos... OMIM:610768
Toluene Embryopathy
Hydronephrosis, Epicanthus, Abnormal localization of kidney, Short palpebral fissure ORPHA:1920
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis, Decreased retinol-binding protein level OMIM:615147
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Ventriculomegaly, Hypopnea, Failure to thrive, Seizure, Apnea, 3-Methy... OMIM:617248
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Seizure, Hepatosplenomegaly, Myoclonus, Portal hypertension, Whi... OMIM:609136
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress, Ascites, Cardiomegaly, Pulmonary edema, Hepatomegaly, Pericardial ... OMIM:115197
Encephalocraniocutaneous Lipomatosis
Seizure, Limbal dermoid, Eyelid coloboma, Hydronephrosis, Hydrocephalus, Pelvic kidney, Dandy-Wal... OMIM:613001
Hallermann-Streiff Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Hyperlordosis, Bilateral tonic-... OMIM:234100
Saethre-Chotzen Syndrome
Blepharospasm, Abnormal form of the vertebral bodies, Seizure, Epicanthus, Ptosis, Hyperlordosis,... ORPHA:794
Hereditary Orotic Aciduria
Aminoaciduria, Downslanted palpebral fissures, Oroticaciduria, Abnormality of the ureter, Splenom... ORPHA:30
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure... OMIM:222700
Gabriele-De Vries Syndrome
Ventriculomegaly, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Ureteropelvic junc... ORPHA:506358
White-Kernohan Syndrome
Short palpebral fissure, Hydroureter, Horizontal eyebrow, Horseshoe kidney, Obesity, Long eyelash... OMIM:619426
Cryptococcosis
Seizure, Respiratory distress, Pleural effusion, Peritonitis, Cirrhosis, Hydrocephalus, Dyspnea, ... ORPHA:1546
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Gait imbalance, Steppage gait, Hyperkeratosis ORPHA:36386
Mycetoma
Abnormal form of the vertebral bodies, Pelvic mass, Paraplegia, Cobblestone-like hyperkeratosis, ... ORPHA:2583
Pachyonychia Congenita
Palmoplantar keratoderma, Failure to thrive, Respiratory distress, Linear arrays of macular hyper... ORPHA:2309
Noonan Syndrome 14
Webbed neck, Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Lympho... OMIM:619745
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive ... ORPHA:85414
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Eversion of lateral third of lower eyelids, Typical absence seizure, Seizure, Inability to walk, ... ORPHA:453504
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Renal duplication, Steroid-responsive anemia, Reticulocy... OMIM:613309
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Eversion of lateral third of lower eyelids, Typical absence seizure, Seizure, Inability to walk, ... ORPHA:352665
Hermansky-Pudlak Syndrome
Thickened skin, Long eyelashes, Renal insufficiency, Weight loss, Neutropenia, Dyspnea, Hyperkera... ORPHA:79430
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Polyhydramnios, Fetal megacystis OMIM:619362
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Seizure, Respiratory distress, Obesity, Oligohydramnios, Upslanted ... ORPHA:177907
Mcleod Syndrome
Seizure, Generalized-onset seizure, Elevated circulating aspartate aminotransferase concentration... OMIM:300842
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Trichorhinophalangeal Syndrome Type 1
Sparse eyebrow, Scoliosis, Hyperlordosis, Sparse eyelashes ORPHA:77258
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Platyspondyly, Increased vertebral height, Vesicoureteral reflux, Upslanted palpebral fissure, Hy... OMIM:620663
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Respiratory distress, Underdeveloped supraorbit... OMIM:123790
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Downslanted palpebral fissures, Bilateral ptosis, Hyperbilirubinemia, Absent gallbladder, Hypocal... ORPHA:163979
Williams-Beuren Syndrome
Incoordination, Epicanthus, Blepharophimosis, Failure to thrive in infancy, Obesity, Renal insuff... OMIM:194050
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Abnormal blood phosphate concentration, Thin eyebrow, Hyperlordosis, Abno... OMIM:190350
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Respiratory distress, Telecanthus, Short neck, Ptosis, Blepharophimosis,... OMIM:217980
Okamoto Syndrome
Webbed neck, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Oligo... ORPHA:2729
Otopalatodigital Syndrome Type 2
Hypospadias, Failure to thrive, Downslanted palpebral fissures, Ureteral obstruction, Prominent s... ORPHA:90652
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Hypospadias, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia,... OMIM:300998
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Seizure, Gait disturbance, Hydrocep... ORPHA:500055
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventriculomegaly, Dilatation of the renal pelvis, Hydroureter, Annular pancreas, Dilatation of th... OMIM:265380
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Seizure, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia, Scoliosis ORPHA:369847
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in... ORPHA:2635
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Bl... OMIM:601186
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Seizure, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, Tremor, Epic... OMIM:617061
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Cockayne Syndrome
Spasticity, Difficulty walking, Action tremor, Cachexia, Ataxia, Hepatomegaly, Urinary incontinen... ORPHA:191
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Upslanted palpebral fissure, Vertebral segmentation defect, Hyperkeratosis, Scoliosis... ORPHA:1005
Laryngotracheal Angioma
Respiratory distress, Facial hemangioma, Apnea, Intercostal retractions ORPHA:137935
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Kyphosis, Seizure, Lymphopenia, Dysmetria, Head titubation, Ataxi... OMIM:619708
Trisomy 18
Webbed neck, Oligohydramnios, Underdeveloped supraorbital ridges, Hydronephrosis, Abnormality of ... ORPHA:3380
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Hereditary Angioedema Type 1
Facial edema, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, ... ORPHA:100050
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Decreased body weight, Short neck, Hyperlordosis OMIM:615222
Zimmermann-Laband Syndrome 2
Long eyelashes, Thick eyebrow, Short neck, Kyphosis, Synophrys OMIM:616455
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Generalized hyperkeratosis, Generalized ichthyosis, Ectropion, Unsteady gait ORPHA:2269
Ring Chromosome 12 Syndrome
Glandular hypospadias, Webbed neck, Lumbar hyperlordosis, Small for gestational age ORPHA:1439
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Short palpebral fissure, Seizure, Obesity, Renal insuf... OMIM:188400
Fetal Cytomegalovirus Syndrome
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Seizure, Sp... ORPHA:294
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Ectropion, Generalized ichthyosis, Hyper... OMIM:612281
Campomelic Dysplasia
Ventriculomegaly, Hydronephrosis, Short neck, Poorly ossified cervical vertebrae, Scoliosis, Kyph... ORPHA:140
Occipital Horn Syndrome
Platyspondyly, Seizure, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased cir... OMIM:304150
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pancreatic cysts, ... OMIM:301111
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar hyperkerato... OMIM:620507
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pfeiffer Syndrome
Short neck, Ptosis, Hyperlordosis ORPHA:710
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Nasolacrimal duct obstruction, Spasticity, Ventriculomegaly, Seizure, Downslanted palpebral fissu... OMIM:300966
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Anterior clefting of vertebral bo... OMIM:265000
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Downslanted palpebral fissures, Respiratory distress, Horseshoe kidney, Polyhydramnios, Splenomeg... OMIM:617088
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
3Mc Syndrome 1
Highly arched eyebrow, Caudal appendage, Downslanted palpebral fissures, Telecanthus, Underdevelo... OMIM:257920
Urachal Cyst
Leukocytosis, Abscess, Hematuria, Peritonitis, Elevated circulating C-reactive protein concentrat... ORPHA:488
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Lateral ventricle dilatation, Hooded eyelid, Respiratory distress, Upsla... OMIM:612863
Chitayat Syndrome
Respiratory distress, Polyhydramnios OMIM:617180
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Dilatation of the renal pelvis, Chordee, Ataxia, Hypospadias, Failure to thrive... ORPHA:268261
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Ane... OMIM:611490
Al-Gazali Syndrome
Hydronephrosis, Polyhydramnios, Failure to thrive OMIM:609465
Acrofacial Dysostosis, Cincinnati Type
Decreased body weight, Epicanthus, Aqueductal stenosis, Downslanted palpebral fissures, Abnormali... OMIM:616462
Osteogenesis Imperfecta, Type X
Platyspondyly, Respiratory distress, Nephrolithiasis, Thoracic scoliosis, Shallow orbits, Vertebr... OMIM:613848
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Palmoplantar keratoderma, Downslanted palpebral fissures, Respiratory distress, Acanthosis nigric... ORPHA:1555
Opitz-Kaveggia Syndrome
Spasticity, Seizure, Downslanted palpebral fissures, Lumbar hyperlordosis, Epicanthus, Short neck... OMIM:305450
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Parakeratosis, Neutrophilia, Elevated circulating C-reacti... OMIM:614204
Tuberous Sclerosis Complex
Chronic kidney disease, Seizure, Respiratory distress, Epileptic spasm, Stage 5 chronic kidney di... ORPHA:805
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy, Periorbital edema, Facial palsy, Edema ORPHA:2483
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia, Exertional dyspnea, Hypertonia OMIM:250800
Hurler Syndrome
Abnormal vertebral morphology, Spastic paraparesis, Cerebral palsy, Spinal canal stenosis, Thick ... ORPHA:93473
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
Sotos Syndrome
Abnormal vertebral morphology, Abnormality of the kidney, Acute lymphoblastic leukemia, Hypospadi... ORPHA:821
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Cachexia, Bilatera... ORPHA:2072
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ex... ORPHA:90033
Variegate Porphyria, Childhood-Onset
Epidermal hyperkeratosis, Focal impaired awareness seizure, Seizure, Increased erythrocyte protop... OMIM:620483
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Failure to thrive, Seizure, Scoliosis, Kyphosis ORPHA:2115
Osteopathia Striata-Cranial Sclerosis Syndrome
Epicanthus, Hyperlordosis, Spina bifida occulta, Facial palsy, Scoliosis ORPHA:2780
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Clonus, Proximal renal tubular acidosis, Aminoaciduria, Renal insuff... ORPHA:534
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hyposegmentation of neutrophil nuc... OMIM:618019
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Difficulty walking, Hepato... ORPHA:51
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Telecanthus, Vesicoureteral ... OMIM:300707
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Spasticity, Ventriculomegaly, Hydromyelia, Seizure, Elevated circul... OMIM:615287
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Ventriculomegaly, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the a... ORPHA:466943
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Spasticity, Abnormality of the urinary system, Hydroureter, Abnormal form of the vertebral bodies... ORPHA:2636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Granuloma, Seizure, Lower limb dysmetria, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal rena... ORPHA:363700
Frank-Ter Haar Syndrome
Thickened skin, Downslanted palpebral fissures, Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Short palpebral fissure, Kyphosis, Seizure, Long eyelashes, Decreased body... OMIM:619005
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Downslanted palpebral fissures OMIM:202650
Schopf-Schulz-Passarge Syndrome
Multiple eyelid margin cysts, Palmoplantar keratoderma, Hyperkeratosis OMIM:224750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Apnea, Gait ataxia, Dysmetria, Tremor, Epicanthus, Limb hypertonia, ... OMIM:618056
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce... OMIM:606002
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Thickened skin, Spondylolisthesis, Mucopolysacchariduria, He... OMIM:252600
Laryngomalacia
Respiratory distress OMIM:150280
Choreoacanthocytosis
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Acanthocytosis, Loss of ambulation, ... ORPHA:2388
Sarcoidosis, Susceptibility To, 2
Pleural effusion, Splenomegaly, Hepatomegaly, Dyspnea, Facial palsy, Mediastinal lymphadenopathy OMIM:612387
Chime Syndrome
Acute leukemia, Seizure, Ichthyosis, Upslanted palpebral fissure, Hydronephrosis, Epicanthus, Pto... ORPHA:3474
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Early-Onset Autosomal Dominant Alzheimer Disease
Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia ORPHA:1020
Frontometaphyseal Dysplasia 1
Hydroureter, Downslanted palpebral fissures, Prominent supraorbital ridges, Hydronephrosis, Cervi... OMIM:305620
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Sparse lateral eyebrow, Aplasia/Hypoplasia of the eyebrow, Sparse or ab... ORPHA:3353
Premature Aging Syndrome, Penttinen Type
Thickened skin, Failure to thrive, Corneal stromal edema, Palmoplantar hyperkeratosis, Hyperkerat... OMIM:601812
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Seizure, Ascites, Acute hepatic failure, Leukocytosis, Splenomegal... ORPHA:342
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Upslanted palpebral fissure, Hydronephrosis, Ptosis... ORPHA:1297
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Pleural effusion, ... OMIM:249100
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Acanthocytosis, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:234200
Cono-Spondylar Dysplasia
Failure to thrive, Seizure, Short neck, Polyhydramnios, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Elevated circulating creat... OMIM:617675
Lymphangioleiomyomatosis
Chylothorax, Seizure, Abnormal urinary color, Ascites, Lymphedema, Pulmonary lymphangiomyomatosis... ORPHA:538
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Elevated circulating creatine kinase concentration, Ataxia, Unsteady gait, Inc... OMIM:619405
Infantile Liver Failure Syndrome 3
Platyspondyly, Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration... OMIM:618641
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive OMIM:245590
De Sanctis-Cacchione Syndrome
Spasticity, Ventriculomegaly, Ectropion, Babinski sign, Scissor gait, Parakeratosis, Entropion, H... OMIM:278800
Cousin Syndrome
Short palpebral fissure, Prominent protruding coccyx, Hydronephrosis, Short neck, Hydrocephalus, ... OMIM:260660
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosi... OMIM:173200
Pontocerebellar Hypoplasia, Type 17
Spastic tetraplegia, Seizure, Upslanted palpebral fissure, Paroxysmal dystonia, Epicanthus, Limb ... OMIM:619909
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Ptosis, Multiple bladder diverticula, Blepharophimosis ORPHA:2728
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Respiratory distress, Difficulty walking, Tremor, Elevated circulating creatine... OMIM:164310
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:461
Chronic Mucocutaneous Candidiasis
Hepatitis, Seizure, Recurrent urinary tract infections, Hematuria, Hyperkeratosis ORPHA:1334
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Epicanthus, Cirrhosis, Hepatomegaly, Failure to thrive in infancy, Generalized... OMIM:619418
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Blepharitis, Hydroureter, Abnormality of the verteb... ORPHA:2273
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Broad eyebrow, Failure to thrive in infancy, Hyperkeratosis OMIM:301220
Opitz Gbbb Syndrome
Ventriculomegaly, Abnormality of the urinary system, Downslanted palpebral fissures, Telecanthus,... ORPHA:2745
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis, Seizure ORPHA:1858
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Elevated circulating hepati... ORPHA:95455
Eisenmenger Syndrome
Generalized edema, Abnormal circulating B-type natriuretic peptide concentration, Increased mean ... ORPHA:97214
Distal 22Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Seizure, Recurrent urinary tract infections, Oculomotor apraxia, Blepharop... ORPHA:261330
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Congenital ichthyosiform erythroderma, Curly eyelashes, Sparse eyelashes, Hyperke... OMIM:602400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Seizure, Thoracic scoliosis, Long palpebral fissure, Ptosis, Hydrocephalus, Kyp... OMIM:603387
Knobloch Syndrome 1
Ventriculomegaly, Myoclonic seizure, Horizontal eyebrow, Seizure, Bifid ureter, Telecanthus, Rena... OMIM:267750
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Upslanted palp... OMIM:154230
Noonan Syndrome 2
Webbed neck, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Increased nuchal transl... OMIM:605275
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ec... OMIM:242300
Cockayne Syndrome A
Ventriculomegaly, Failure to thrive, Seizure, Renal insufficiency, Splenomegaly, Tremor, Thymic h... OMIM:216400
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Splenomegaly, Edema ORPHA:33577
Mosaic Trisomy 8
Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Short neck, Scoliosis ORPHA:96061
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Failure to thrive ORPHA:60032
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu... ORPHA:79240
Brucellosis
Sacroiliac arthritis, Hypersplenism, Weight loss, Glomerulonephritis, Hepatomegaly, Elevated circ... ORPHA:1304
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Hypocalciuria, Hypophosphaturia, Thick eyebrow, Epicanthus, Orthokeratotic hyperk... ORPHA:73223
Ichthyosis Prematurity Syndrome
Polyhydramnios, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Upslanted palpebral fissure, Short neck, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, ... ORPHA:3082
Wars2-Related Combined Oxidative Phosphorylation Defect
Ventriculomegaly, Lateral ventricle dilatation, Seizure, Difficulty walking, Dilated fourth ventr... ORPHA:572798
Hennekam Syndrome
Chylothorax, Seizure, Lymphedema, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Hypocalce... ORPHA:2136
Dpagt1-Cdg
Thickened skin, Elevated circulating hepatic transaminase concentration, Anasarca, Failure to thr... ORPHA:86309
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis ORPHA:89843
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, C2-C3 subluxation, Vertebral segmentation de... OMIM:272460
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Bardet-Biedl Syndrome
Chronic kidney disease, Spasticity, Decreased HDL cholesterol concentration, Hepatic steatosis, S... ORPHA:110
Scheie Syndrome
Spastic paraparesis, Cerebral palsy, Splenomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit... ORPHA:69665
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei... ORPHA:276621
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Ectropion, Hyperkeratosis, Congenital nonbullous ichthyosiform e... OMIM:615023
Trisomy 8P
Nephrocalcinosis, Annular pancreas, Seizure, Upslanted palpebral fissure, Hydronephrosis, Aplasia... ORPHA:264450
Adnp Syndrome
Ventriculomegaly, Seizure, Recurrent urinary tract infections, Respiratory distress, Bilateral pt... ORPHA:404448
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral... ORPHA:1507
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Ectropion, Hyperkeratosis, Congenital nonbullous ichthyosif... OMIM:606545
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Hypoplastic sacrum, Thoracic hemivertebrae, Downslanted palpebral fissures, Lon... OMIM:268310
Unilateral Polymicrogyria
Involuntary movements, Focal impaired awareness seizure, Seizure, Pseudobulbar paralysis, Apnea, ... ORPHA:268943
Tyrosinemia Type 2
Palmoplantar keratoderma, Seizure, Tremor, Ataxia, Hyperkeratosis ORPHA:28378
Satoyoshi Syndrome
Sparse or absent eyelashes, Hyperlordosis ORPHA:3130
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Dyspnea, Verte... OMIM:230800
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Epicanthus, Polyhydramnios, Narrow palpebral fissure ORPHA:254528
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Decerebrate rigidity, Tip-toe gait, Seizure, Incoordination, Tremor,... ORPHA:512
Subependymal Nodular Heterotopia
Focal aware seizure, Limb myoclonus, Seizure, Focal-onset seizure ORPHA:101030
Gaucher Disease, Type Ii
Spasticity, Failure to thrive, Seizure, Apnea, Splenomegaly, Rigidity, Hepatomegaly, Oculomotor a... OMIM:230900
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Failure to thrive, Seizure, Telecanthus, Upslanted palpebral fissure, Epicanthus, P... OMIM:618050
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Gait ataxia, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:88628
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Lumbar hyperlordosis, Prominent supraorbital ridges, Beaking of vertebral bodies, ... OMIM:215150
Cat Eye Syndrome
Renal agenesis, Downslanted palpebral fissures, Horseshoe kidney, Vesicoureteral reflux, Biliary ... OMIM:115470
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Seizure, Recurrent urinary tract infections, Abno... ORPHA:3463
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Kyphoscoliosis, Weakness of facial m... ORPHA:99956
Atelis Syndrome 2
Short palpebral fissure, Seizure, Dysmetria, Dacryocystocele, Epicanthus, Anemia, Thrombocytopeni... OMIM:620185
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Hyperkeratosis, Ichthyosis ORPHA:209981
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, Ps... OMIM:615508
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Epicanthus, Short neck, Truncal obesity, Synophrys OMIM:615777
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Ptosis, Myoclonus, Seizure ORPHA:70595
Lipoid Proteinosis
Thickened skin, Dystonia, Hyperkeratosis, Seizure ORPHA:530
Menkes Disease
Thickened skin, Spasticity, Seizure, Chorea, Bladder diverticulum, Hypertonia, Prolonged neonatal... ORPHA:565
Acute Radiation Syndrome
Seizure, Lymphopenia, Thrombocytopenia, Granulocytopenia, Hyperkeratosis ORPHA:454831
8P11.2 Deletion Syndrome
Seizure, Azoospermia, Splenomegaly, Upslanted palpebral fissure, Epicanthus, Spherocytosis, Bleph... ORPHA:251066
Teebi-Shaltout Syndrome
Highly arched eyebrow, Caudal appendage, Ureteral stenosis, Horseshoe kidney, Telecanthus, Hydron... OMIM:272950
Lichen Planopilaris
Pterygium, Hyperkeratosis, Hepatitis ORPHA:525
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Highly arched eyebrow, Bilateral renal hypoplasia, Seizure, Respirator... ORPHA:508488
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ectropion, Congenital non... ORPHA:100976
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Seizure, Cortical nephrocalcinosis, Respiratory distress, Ascites, Medullary ne... ORPHA:51608
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Lumbar hyperlordosis, Biconcave vertebral bodies, Kyphoscoliosis, Narrow vertebral... OMIM:271510
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Kyphoscoliosis, Weakness of facial musculature, Weight loss, Hyperlordosis, Po... ORPHA:2020
Crisponi Syndrome
Seizure, Scoliosis, Kyphosis, Hypertonia ORPHA:1545
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Spina bifida occulta, Hypoplasia of penis, Kyphosis, Synophrys ORPHA:2983
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Myoclonic seizure, Hyperkinetic movements, Long palpebral fissure, Gait di... OMIM:620469
Pmm2-Cdg
Epicanthus, Impaired neutrophil chemotaxis, Ataxia, Nephrotic syndrome, Lymphedema, Abnormality o... ORPHA:79318
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Webbed neck, Highly arched eyebrow, Chylothorax, Juvenile myelomonocytic leukemia, Failure to thr... OMIM:613563
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
Iniencephaly
Absent vertebra, Renal agenesis, Hyperlordosis, Hydrocephalus, Polyhydramnios, Dandy-Walker malfo... ORPHA:63259
Hajdu-Cheney Syndrome
Thickened skin, Failure to thrive, Hypoplastic 5th lumbar vertebrae, Downslanted palpebral fissur... ORPHA:955
Cowden Syndrome
Abnormal penis morphology, Ataxia, Palmoplantar keratoderma, Failure to thrive, Seizure, Generali... ORPHA:201
Cockayne Syndrome B
Small for gestational age, Failure to thrive, Seizure, Renal insufficiency, Splenomegaly, Tremor,... OMIM:133540
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Large for gestational age ORPHA:226313
Familial Nasal Acilia
Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology ORPHA:922
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Telecanthus OMIM:617102
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Seizure, Distal urethral duplication, Midline facial capillary hem... OMIM:146510
Stromme Syndrome
Hydronephrosis, Hydrocephalus, Accessory spleen, Bilateral renal hypoplasia OMIM:243605
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Fasciculations, Difficulty walking, Chro... OMIM:610717
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Splenomegaly, Tremor, Decreased serum zinc, Ataxia, Hepatomegaly OMIM:201100
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... OMIM:148700
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Seizure, Upslanted pa... ORPHA:261250
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Downslanted palpebral fissures, Horseshoe kidney, Ve... DECIPHER:81
Cranioectodermal Dysplasia 2
Cholestasis, Hyperbilirubinemia, Sparse eyelashes, Epicanthus, Short neck, Blepharophimosis, Narr... OMIM:613610
Raine Syndrome
Highly arched eyebrow, Hydroureter, Downslanted palpebral fissures, Hydronephrosis, Short neck, H... OMIM:259775
Mucolipidosis Type Ii
Thickened skin, Inability to walk, Hepatosplenomegaly, Oligohydramnios, Splenomegaly, Epicanthus,... ORPHA:576
Alstrom Syndrome
Nephritis, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol con... OMIM:203800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Webbed neck, Downslanted palpebral fissures, Abnormal circulating creatine kinase concentration, ... ORPHA:2215
Johanson-Blizzard Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hypospadias, Intrahepa... OMIM:243800
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation, Ptosis, Facial palsy, Scoliosis, Kyphosis OMIM:617143
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Platyspondyly, Renal hypoplasia, Sparse eyebrow, Lateral ventricle dilatation, Failure to thrive,... OMIM:210710
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the ureter, Vertebral segmentati... ORPHA:2311
Kallmann Syndrome
Renal agenesis, Seizure, Paraplegia, Obesity, Ichthyosis, Tremor, Gait disturbance, Ptosis, Ataxi... ORPHA:478
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Oligohydramnios OMIM:219100
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Mend Syndrome
Failure to thrive, Seizure, Crossed fused renal ectopia, Ichthyosis, Upslanted palpebral fissure,... OMIM:300960
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Hyperkeratosis, Hydrocephalus ORPHA:163966
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Epicanthus, Micropenis, Seizure ORPHA:2519
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Do... ORPHA:404440
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Lower limb spasticity, Clonus, Myoclonic spasms, Hypertonia, Urinary incontinen... ORPHA:447997
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Edema OMIM:619183
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Acanthocytosis, Parakeratosis, Congenital nonbullous ic... OMIM:604777
Restrictive Dermopathy 2
Respiratory distress, Thickened skin, Scleroderma OMIM:619793
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventriculomegaly, Hydromyelia, Renal age... OMIM:308205
Lateral Meningocele Syndrome
Downslanted palpebral fissures, Telecanthus, Biconcave vertebral bodies, Short neck, Neurogenic b... OMIM:130720
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Elevated urinary dopamine level, Elevated urinary norepinephrine le... ORPHA:29072
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Failure to thrive, Chronic hepatitis, Splenomeg... OMIM:308230
Ramos-Arroyo Syndrome
Xerostomia, Respiratory distress, Upslanted palpebral fissure, Decreased body weight, Severe fail... ORPHA:1051
Leprechaunism
Thickened skin, Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypokalem... ORPHA:508
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Palmoplantar keratoderma, Sparse eyelashes, Follicular hyperkeratosis, Ectropion,... OMIM:308800
Dowling-Degos Disease
Hyperkeratotic papule, Penile freckling, Hyperkeratosis ORPHA:79145
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Ventriculomegaly, Short palpebral fissure, Seizure, Downslanted palpebral fissures, Respiratory d... ORPHA:480880
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Moderate albuminuria, Obesity, Hydronephrosis, Scoliosis OMIM:619269
Myoclonic Epilepsy Of Lafora 1
Hepatic failure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal se... OMIM:254780
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Spasticity, Myoclonic seizure, Sparse eyebrow, Tetraparesis, Downslanted p... OMIM:619124
Thyroid Lymphoma
Respiratory distress, Dyspnea, Lymphadenopathy ORPHA:97285
Superficial Siderosis
Enlarged sylvian cistern, Functional abnormality of the bladder, Seizure, Limb ataxia, Dysmetria,... ORPHA:247245
Incontinentia Pigmenti
Spasticity, Seizure, Hemiplegia/hemiparesis, Eosinophilia, Gait disturbance, Hyperkeratosis, Spin... ORPHA:464
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Apnea, Seizure ORPHA:85201
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Hydronephrosis,... OMIM:258040
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Acute hepatic failure, Renal hypoplasia/aplasia, ... ORPHA:2092
Acro-Renal-Mandibular Syndrome
Downslanted palpebral fissures, Oligohydramnios, Butterfly vertebrae, Renal hypoplasia/aplasia, S... ORPHA:958
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Abnormality of the upper uri... ORPHA:2916
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ptosis, Ataxia, Urinary incontinence, Bradykinesia... OMIM:146500
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Edema, Hydronephrosis, Polycystic kidney dysplasia, Pedal edema OMIM:236700
Anauxetic Dysplasia 1
Platyspondyly, Atlantoaxial dislocation, Lumbar hyperlordosis, Short neck, Cervical subluxation, ... OMIM:607095
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Spasticity, Progressive ventriculomegaly, Ventriculomegaly, Lateral ve... ORPHA:500150
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Upslanted palpebral fissure, Hyd... OMIM:251260
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Weismann-Netter Syndrome
Anemia, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:3344
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Melnick-Needles Syndrome
Failure to thrive, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, H... OMIM:309350
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Seizure OMIM:136630
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Cole-Carpenter Syndrome 2
Platyspondyly, Downslanted palpebral fissures, Oligohydramnios, Hydrocephalus, Kyphosis OMIM:616294
Mandibulofacial Dysostosis, Guion-Almeida Type
Seizure, Downslanted palpebral fissures, Respiratory distress, Telecanthus, Upslanted palpebral f... OMIM:610536
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Renal hypoplasia, Splenomegaly, Nephroblastoma, Scoliosis OMIM:612918
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:615821
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramid... OMIM:612199
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced... OMIM:102700
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Seizure, Downslanted palpebral fissures, Telecanthus, Grade III vesicou... OMIM:619522
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc... OMIM:239000
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Hydronephrosis, Abdominal mass, Cystic renal dysplasia OMIM:615989
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:613943
Cdags Syndrome
Sparse eyebrow, Porokeratosis, Rectourethral fistula, Sparse eyelashes, Ptosis, Ectropion, Hyposp... OMIM:603116
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... OMIM:615381
Cohen Syndrome
Seizure, Downslanted palpebral fissures, Failure to thrive in infancy, Obesity, Long eyelashes, T... ORPHA:193
Megalocornea-Intellectual Disability Syndrome
Seizure, Downslanted palpebral fissures, Underdeveloped supraorbital ridges, Epicanthus, Hypercho... ORPHA:2479
Nocardiosis
Brain abscess, Cutaneous abscess, Lymphadenitis, Seizure, Respiratory distress, Pleural effusion,... ORPHA:31204
Osteoglophonic Dysplasia
Platyspondyly, Failure to thrive, Downslanted palpebral fissures, Respiratory distress, Telecanth... OMIM:166250
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Joubert Syndrome 21
Seizure, Hyperechogenic kidneys, Apnea, Splenomegaly, Renal cyst, Oculomotor apraxia, Ptosis, Ata... OMIM:615636
Meier-Gorlin Syndrome 1
Short palpebral fissure, Failure to thrive, Respiratory distress, Long eyelashes, Blepharophimosi... OMIM:224690
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Palmoplantar keratoderma, Abnormal eye... ORPHA:1775
Hyperekplexia 2
Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Periportal fibrosis, Edema, Ascites, Polyhydramnios, Splenomegaly, Epicanthus, ... OMIM:269860
Occipital Horn Syndrome
Platyspondyly, Hepatitis, Recurrent urinary tract infections, Cholestasis, Downslanted palpebral ... ORPHA:198
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis OMIM:602723
Mesomelia-Synostoses Syndrome
Abnormal vertebral morphology, Downslanted palpebral fissures, Telecanthus, Hydronephrosis, Ptosi... OMIM:600383
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Failure to thrive, Upslanted palpebral fissure, Medial flaring of the eyebrow, Scoli... OMIM:617602
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Progressive Non-Infectious Anterior Vertebral Fusion
Thickened skin, Abnormality of the vertebral column, Abdominal situs inversus, Downslanted palpeb... ORPHA:2062
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Renal agenesis, Failure to thrive, Seizure, Episodic tachypnea, Apnea, Tre... ORPHA:2754
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H... ORPHA:2237
Cowden Syndrome 1
Seizure, Lymphopenia, Intention tremor, Acrokeratosis, Palmoplantar hyperkeratosis, Scoliosis, Ky... OMIM:158350
Floating-Harbor Syndrome
Nephrocalcinosis, Broad-based gait, Dilatation of the renal pelvis, Renal agenesis, Seizure, Spee... ORPHA:2044
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Per... OMIM:620376
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Unilateral renal agenesis, Ventriculomegaly, Acute myelomonocytic leukemia, Failur... ORPHA:99646
Coffin-Lowry Syndrome
Ventriculomegaly, Abnormal form of the vertebral bodies, Seizure, Downslanted palpebral fissures,... ORPHA:192
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis ORPHA:79151
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Oligohydramnios, Upslanted palp... OMIM:619194
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Kyphoscoliosis, Entropion, Absent eyebrow, Blepharophimosis, Narrow palpebral fissure... OMIM:601701
Acromesomelic Dysplasia 4
Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thick eyebrow, Thoracic scoliosis, B... OMIM:619636
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Ventriculomegaly, Hypoplasia of the b... OMIM:249000
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Lumbar hyperlordosis, Downslanted palpebral fissures OMIM:602471
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Seizure, Inability to walk, Obesity, Hypoventilation, Unsteady gait, Scoliosis, Kyphosis OMIM:618493
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Abnormal lacrimal duct morphology, Xerostomia, Lacrimal duct aplasia, Seizure, ... ORPHA:2363
Craniofacioskeletal Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Absent gallbladder, Hypocalcemia, Hydron... OMIM:300712
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (wi... OMIM:620330
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Weakness of facial musculature, Chylothorax, Thoracic scoliosis OMIM:620278
Fragile X-Associated Tremor/Ataxia Syndrome
Urinary bladder sphincter dysfunction, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Gait distu... ORPHA:93256
Kanzaki Disease
Aminoaciduria, Lymphedema, Tortuosity of conjunctival vessels, Increased urinary O-linked sialope... OMIM:609242
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Spasticity, ... ORPHA:468631
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Seizure, Respiratory distress, Sacral dimple, Abnor... ORPHA:2556
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Downslanted palpebral fissures, Polyhydramnios, Splenom... OMIM:312870
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, O... ORPHA:49
Kasabach-Merritt Phenomenon
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, A... ORPHA:2330
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Abnormality of the urinary system, Abnormal... ORPHA:280
Charge Syndrome
Webbed neck, Highly arched eyebrow, Horseshoe kidney, Vesicoureteral reflux, Polyhydramnios, Eyel... ORPHA:138
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Recurrent cutaneous abscess formation OMIM:613736
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Chylothorax, Lymphedema, Nonimmune hydrops feta... OMIM:153400
Incontinentia Pigmenti
Spasticity, Seizure, Leukocytosis, Kyphoscoliosis, Eosinophilia, Hemivertebrae, Hyperkeratosis OMIM:308300
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Meningioma
Seizure, Hemifacial spasm, Abnormal central motor function, Difficulty walking, Obesity, Focal-on... ORPHA:2495
Ruvalcaba Syndrome
Scoliosis, Kyphosis, Downslanted palpebral fissures OMIM:180870
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hy... OMIM:619208
Peters-Plus Syndrome
Webbed neck, Renal hypoplasia, Ventriculomegaly, Seizure, Upslanted palpebral fissure, Biliary tr... OMIM:261540
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Spasticity, Ketonuria, Failure to thrive, Seizure, Generalized-onset seizu... OMIM:220111
Hypotrichosis 6
Sparse eyebrow, Follicular hyperkeratosis, Sparse eyelashes OMIM:607903
Combined Oxidative Phosphorylation Deficiency 3
Ventriculomegaly, Seizure, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentra... OMIM:610505
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Seizure, Difficulty walking, Apnea, Hypoventilation, Urinary incontinence, Scoliosis, K... OMIM:619482
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia... OMIM:615688
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Lumbar hyperlordosis, Back pain OMIM:169550
Magel2-Related Prader-Willi-Like Syndrome
Ventriculomegaly, Xerostomia, Failure to thrive, Seizure, Almond-shaped palpebral fissure, Increa... ORPHA:398069
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Abnormality of the urinary system, Failure to thrive, Seizure,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Abnormality of the urinary system, Failure to thrive, Seizure,... ORPHA:353277
Tick-Borne Encephalitis
Tongue fasciculations, Elevated circulating hepatic transaminase concentration, Incoordination, S... ORPHA:297
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... OMIM:614594
Turnpenny-Fry Syndrome
Failure to thrive, Downslanted palpebral fissures, Lumbar hyperlordosis, Facial hypotonia, Decrea... OMIM:618371
Zttk Syndrome
Unilateral renal agenesis, Spasticity, Ventriculomegaly, Sparse eyebrow, Failure to thrive, Seizu... OMIM:617140
Lichen Planus Pemphigoides
Conjunctivitis, Hyperkeratosis, Blepharitis ORPHA:254478
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Sparse lateral eyebrow, Epidermal hyperkeratosis OMIM:190351
Apert Syndrome
Ventriculomegaly, Downslanted palpebral fissures, Cervical C5/C6 vertebrae fusion, Hydronephrosis... OMIM:101200
Monilethrix
Abnormal eyebrow morphology, Follicular hyperkeratosis, Abnormal eyelash morphology ORPHA:573
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... OMIM:602450
Vater/Vacterl Association
Abnormal vertebral morphology, Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureterop... OMIM:192350
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Platyspondyly, Ventriculomegaly, Elevated amniotic fluid alpha-fetoprotein, Failur... OMIM:309000
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Weaver Syndrome
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Generalized non-motor (absence) seizu... OMIM:277590
Feingold Syndrome Type 1
Nephritis, Short palpebral fissure, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux,... ORPHA:391641
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Ptosis, Scoliosis ORPHA:391474
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Brown pigme... OMIM:203500
Tetrasomy 9P
Seizure, Recurrent urinary tract infections, Horseshoe kidney, Downslanted palpebral fissures, Ab... ORPHA:3310
Weill-Marchesani Syndrome 1
Thickened skin, Spinal canal stenosis, Lumbar hyperlordosis, Shallow orbits, Scoliosis OMIM:277600
Frontometaphyseal Dysplasia
Downslanted palpebral fissures, Ureteral obstruction, Prominent supraorbital ridges, Hydronephros... ORPHA:1826
Mend Syndrome
Failure to thrive, Seizure, Sacral dimple, Elevated 8(9)-cholestenol, Telecanthus, Ichthyosis, Up... ORPHA:401973
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... ORPHA:2473
Ichthyosis, Annular Epidermolytic, 1
Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Congenital bullous i... OMIM:607602
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Seizure, Neoplasm of the thymus, Generalized-onset seiz... ORPHA:217253
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Short neck, Lumbar hyperlordosis OMIM:612813
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Monosomy 9Q22.3
Ventriculomegaly, Abnormality of the vertebral column, Seizure, Downslanted palpebral fissures, L... ORPHA:77301
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Hyperkeratosis ORPHA:90368
Arterial Tortuosity Syndrome
Short palpebral fissure, Respiratory distress, Blepharophimosis, Dyspnea, Scoliosis, Thin skin ORPHA:3342
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Upslanted palpebral fissure, Myoclonus, Blepharophimosis ORPHA:1352
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Seizure, Broad eyeb... OMIM:619244
Sponastrime Dysplasia
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Biconcave vertebral bod... ORPHA:93357
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Failure to thrive, Seizure, Respiratory distress, Exocrine pancreatic insu... ORPHA:2255
Werner Syndrome
Renal neoplasm, Slender build, Hyperkeratosis ORPHA:902
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Ventriculomegaly, Absent or minimally ossified vertebral bodies, Congenital hep... ORPHA:93271
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Hemiparesis, Weight loss, Hepatomegaly, Urinary incontine... ORPHA:3385
Shprintzen Omphalocele Syndrome
Webbed neck, Lumbar hyperlordosis, Decreased body weight, Epicanthus, Scoliosis, Kyphosis OMIM:182210
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Acromesomelic Dysplasia 1
Thoracolumbar kyphosis, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Beaking o... OMIM:602875
Acrokeratosis Verruciformis
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Cardiomegaly, Diffuse palmopl... OMIM:601214
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Ectropion, Neoplasm of the urethra, Phimosis, Urethral stricture, Anemi... ORPHA:2908
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Seizure, Downslanted palpebral fissures, Long eyelashes, Thick eye... OMIM:135900
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Seizure, Kyphoscoliosis, Abnorm... ORPHA:93360
Peters Plus Syndrome
Webbed neck, Multicystic kidney dysplasia, Ventriculomegaly, Short palpebral fissure, Upslanted p... ORPHA:709
Plague
Lymphadenitis, Respiratory distress, Splenomegaly, Conjunctival hyperemia, Hepatomegaly, Enlarged... ORPHA:707
Bruck Syndrome 1
Platyspondyly, Vertebral wedging, Pterygium, Scoliosis, Kyphosis OMIM:259450
Restrictive Dermopathy 1
Short palpebral fissure, Sparse eyebrow, Epidermal hyperkeratosis, Oligohydramnios, Kyphoscoliosi... OMIM:275210
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Seizure, Downslanted palpebral fissures, Posterior scallop... ORPHA:3042
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Long eyelashes, Telecanthus, Vesicoureteral reflux, Upslanted palpebral fissure, Epi... OMIM:616894
Surfactant Metabolism Dysfunction, Pulmonary, 3
Intraalveolar phospholipid accumulation, Failure to thrive, Respiratory distress, Apnea, Tachypne... OMIM:610921
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Short neck, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:615225
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Follicular hyperkeratosis, Absent eyebrow ORPHA:1809
Glucocorticoid Deficiency 2
Spastic tetraparesis, Focal motor seizure, Myoclonus, Myoclonic seizure OMIM:607398
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Elevated circulating creatine kinase concentration OMIM:151800
Mucoepithelial Dysplasia, Hereditary
Hematuria, Keratoconjunctivitis, Eosinophilia, Follicular hyperkeratosis OMIM:158310
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Congenital Tracheal Stenosis
Fetal ascites, Respiratory distress, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, ... ORPHA:141127
Rett Syndrome, Congenital Variant
Spasticity, Seizure, Chorea, Apraxia, Dystonia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Branchiooculofacial Syndrome
Renal agenesis, Seizure, Ectopic thymus tissue, Telecanthus, Upslanted palpebral fissure, Renal c... OMIM:113620
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Kid Syndrome
Sparse eyebrow, Posterior blepharitis, Palmoplantar keratoderma, Failure to thrive, Congenital ic... ORPHA:477
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Webbed neck, Epicanthus, Aplasia of the thymus, Short neck, Hemiverte... OMIM:618223
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Reactive Arthritis
Recurrent urinary tract infections, Joint swelling, Weight loss, Conjunctivitis, Hyperkeratosis ORPHA:29207
Proteus Syndrome
Thickened skin, Long penis, Thymus hyperplasia, Kyphosis, Abnormal form of the vertebral bodies, ... ORPHA:744
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Kyphoscoliosis, Hydronephrosis, Hemivertebrae, Fused ... ORPHA:97360
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Sparse eyebrow, Respiratory distress, Decrea... OMIM:614748
Behçet Disease
Seizure, Renal insufficiency, Splenomegaly, Pleural effusion, Hemiparesis, Glomerulopathy, Abnorm... ORPHA:117
Hyper-Igd Syndrome
Lymphadenitis, Febrile seizure (within the age range of 3 months to 6 years), Hepatosplenomegaly,... OMIM:260920
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Absent inner and outer dynein arms OMIM:606763
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis ORPHA:1573
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Spasticity, Broad-based gait, Lateral ventricle dilatation, Chordee... ORPHA:261537
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pericardial effusion, Pleural effusion, Splenomegaly, Hepatomegaly, Hypercalciuria,... OMIM:181000
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ... ORPHA:556
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Spasticity, Broad-based gait, Decreased body weight, Chordee, Abnor... ORPHA:2152
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Pontocerebellar Hypoplasia Type 7
Spasticity, Involuntary movements, Microphallus, Fasciculations, Seizure, Myoclonus, Upslanted pa... ORPHA:284339
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Kyphosis, Truncal obesity, Thin skin OMIM:610489
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Sparse eyebrow, Thin eyebrow, Entropion, Hypospadias, Kyphosis OMIM:609944
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... OMIM:615530
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Highly arched eyebrow, Sparse eyebrow, Lumbar hyperlordosis, Intervertebral space narrowing, Narr... OMIM:143095
Beckwith-Wiedemann Syndrome
Nephropathy, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morphol... ORPHA:116
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Marshall-Smith Syndrome
Atlantoaxial dislocation, Ventriculomegaly, Hypoplasia of the odontoid process, Highly arched eye... OMIM:602535
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Ptosis, Abnormal curvature of th... ORPHA:90348
Cowden Syndrome 5
Seizure, Intention tremor, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis OMIM:615108
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis, Pterygium ORPHA:2771
Trichothiodystrophy 1, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Keratoconjunctivitis sicca, Hyperkeratosis, Sma... OMIM:601675
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Gait disturbance, Kyphosis ORPHA:85193
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Blau Syndrome
Nephropathy, Xerostomia, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell ren... ORPHA:90340
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Hypertriglyceridem... OMIM:610644
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Kyphosis, Truncal obesity, Thin skin OMIM:610475
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis OMIM:620148
Inhalational Anthrax
Respiratory distress, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gas... ORPHA:247257
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Trisomy 9P
Downslanted palpebral fissures, Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Spasticity, Broad-based gait, Lateral ventricle dilatation, Epicant... ORPHA:261552
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Ichthyosis, Sparse eyelashes, Keratoconjunctivitis sicca, Hyperkeratosis OMIM:148210
Cardiac Valvular Dysplasia 1
Hydroureter, Urethral diverticulum, Hydronephrosis, Hydrops fetalis, Edema OMIM:212093
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Seizure ORPHA:93259
Wolf-Hirschhorn Syndrome
Accessory spleen, Webbed neck, Ventriculomegaly, Small for gestational age, Highly arched eyebrow... OMIM:194190
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis OMIM:609128
Poland Syndrome
Renal hypoplasia, Acute leukemia, Ureterocele, Abnormality of the liver, Vesicoureteral reflux, R... ORPHA:2911
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
2Q31.1 Microdeletion Syndrome
Ventriculomegaly, Short palpebral fissure, Seizure, Downslanted palpebral fissures, Vertebral seg... ORPHA:251014
Hydrolethalus Syndrome 1
Accessory spleen, Hydronephrosis, Polyhydramnios, Hypospadias, Dandy-Walker malformation, Severe ... OMIM:236680
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Charge Syndrome
Webbed neck, Renal hypoplasia, Renal agenesis, Aplasia/Hypoplasia of the thymus, Downslanted palp... OMIM:214800
Cowden Syndrome 6
Seizure, Intention tremor, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis OMIM:615109
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Ventriculomegaly, Downslanted palpebral fissures, Telecanthus, Hydronephrosis, Nephrotic syndrome... OMIM:601776
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Restrictive Dermopathy
Webbed neck, Short palpebral fissure, Sparse eyebrow, Generalized hyperkeratosis, Downslanted pal... ORPHA:1662
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Granulomatous Disease, Chronic, X-Linked
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Pleural effusion, Splenomegaly, Gran... OMIM:306400
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Spasticity, Ptosis, Hyperkeratosis, Ataxia OMIM:615510
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Failure to thrive, Seizure, Recurrent urinary tract infections... ORPHA:353281
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Igg4-Related Submandibular Gland Disease
Facial edema, Xerostomia, Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lympha... ORPHA:449432
Weill-Marchesani Syndrome 2
Thickened skin, Spinal canal stenosis, Lumbar hyperlordosis, Shallow orbits, Scoliosis OMIM:608328
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Conjunctivitis, Fasciculations, Ascites, Pancytopenia, Leukopenia, Leukocytosis,... ORPHA:99827
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Pancreatic aden... ORPHA:79501
Singleton-Merten Syndrome 2
Scoliosis, Hyperkeratosis OMIM:616298
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis, Obesity OMIM:250420
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Seizure, Ataxia ORPHA:324290
Cardiofacioneurodevelopmental Syndrome
Asplenia, Upslanted palpebral fissure, Kyphosis, Abdominal situs inversus OMIM:619123
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Oligohydramnios, Keratoconjunctivitis sicca, Hydrocephalus, Kyphosis OMIM:616914
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Downslanted palpebral fissures, Communicating hydrocephalu... ORPHA:2050
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis, Peau d'orange OMIM:177850
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Aspartylglucosaminuria
Platyspondyly, Spasticity, Spondylolysis, Seizure, Aspartylglucosaminuria, Spondylolisthesis, Bea... OMIM:208400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse eyebrow, Non-obstructive azoospermia, Lumbar hyperlordosis, Abnormal eyebrow morphology, K... ORPHA:2232
Autosomal Recessive Cutis Laxa Type 1
Dermatochalasis, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract inf... ORPHA:90349
Osteogenesis Imperfecta
Ventriculomegaly, Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bo... ORPHA:666
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis, Generalized dystonia ORPHA:79107
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Failure to thrive, Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis, Elevated circulating creatine kinase ... ORPHA:565612
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Hyperkeratosis, Lymphedema ORPHA:79280
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Periorbital wrinkles, Respiratory distress, Prominent supraorbital ridges, Sparse... OMIM:305100
Atypical Werner Syndrome
Glycosuria, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Intervertebral disk degeneratio... ORPHA:79474
Viss Syndrome
Failure to thrive, Ectropion, Hypereosinophilia, Butterfly vertebrae, Right ventricular hypertrop... OMIM:619472
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Bilateral ptosis, Thoracic scoliosis, Kyphoscoliosis, Keratoconjunctivitis sicca, Hy... ORPHA:536532
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva, Follicular hyperkeratosis OMIM:277350
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Seizure, Speech apraxia, Slender build, Right ventricular hypertrophy, Tremor, Kyphoscoliosis, Ca... OMIM:300967
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms ORPHA:478029
Immunodeficiency 58
Failure to thrive, Cutaneous abscess, Ichthyosis, Dysuria, Recurrent cutaneous abscess formation OMIM:618131
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Mosaic Trisomy 20
Spinal canal stenosis, Horseshoe kidney, Upslanted palpebral fissure, Vertebral segmentation defe... ORPHA:1724
Ear-Patella-Short Stature Syndrome
Failure to thrive, Respiratory distress, Dyspnea, Hypoplasia of penis, Hypospadias, Epispadias ORPHA:2554
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Nephroblastoma, Abnormality of the lymphatic system, Scoliosis, Enlarged kidney ORPHA:276280
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis OMIM:616295
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis ORPHA:1028
Ramon Syndrome
Seizure, Decreased body weight, Scoliosis, Hyperkeratosis, Kyphosis OMIM:266270
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Astrocytosis, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Gait... OMIM:601104
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Leprosy
Paralytic lagophthalmos, Abnormality of the spleen, Abnormality of the liver, Loss of eyelashes, ... ORPHA:548
Genitopatellar Syndrome
Multicystic kidney dysplasia, Downslanted palpebral fissures, Polyhydramnios, Hydronephrosis, Col... OMIM:606170
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Abnormal circulating biopterin concentration, Tremor, Abn... OMIM:612716
Robinow Syndrome, Autosomal Dominant 1
Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, Renal duplication, H... OMIM:180700
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis, Seizure ORPHA:261190
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Chromosome Xq26.3 Duplication Syndrome
Acanthosis nigricans, Kyphosis, Seizure OMIM:300942
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Long eyelashes, Kyphoscoliosis, Hydronephrosis, Short ne... OMIM:136140
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Webbed neck, Biliary cirrhosis, Elevated circulating... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Webbed neck, Biliary cirrhosis, Elevated circulating... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Webbed neck, Biliary cirrhosis, Elevated circulating... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Webbed neck, Biliary cirrhosis, Elevated circulating... ORPHA:881
Holoprosencephaly 3
Hydronephrosis, Ventriculomegaly OMIM:142945
Auriculocondylar Syndrome
Respiratory distress, Ptosis ORPHA:137888
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity, Thin skin OMIM:219080
Poliomyelitis
Fasciculations, Inability to walk, Hyperkinetic movements, Paralysis, Paraparesis, Absent tonsils ORPHA:2912
Complete Atrioventricular Septal Defect
Intercostal retractions, Failure to thrive, Cardiomegaly, Tachypnea, Hepatomegaly, Right ventricu... ORPHA:1329
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Hyperkeratosis ORPHA:1806
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Parakeratosis ORPHA:64745
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Autosomal Recessive Malignant Osteopetrosis
Apnea, Splenomegaly, Tremor, Hypocalcemia, Hepatomegaly, Hypophosphatemia, Hydrocephalus, Lymphad... ORPHA:667
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Pure Autonomic Failure
Urinary incontinence, Dysuria ORPHA:441
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Follicular hyperkeratosis, Sparse eyelashes OMIM:613102
Stüve-Wiedemann Syndrome
Respiratory distress, Oligohydramnios, Apnea, Scoliosis, Sacral dimple ORPHA:3206
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce... OMIM:619381
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Porokeratosis, Absent eyelashes, Absent eyebrow, Hypospadias, Kyphosis ORPHA:85199
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Respiratory distress, Oligohydramnios, Short neck, O... ORPHA:3404
Warburg-Cinotti Syndrome
Symblepharon, Joint swelling, Epicanthus, Follicular hyperkeratosis, Blepharophimosis, Sterile ab... OMIM:618175
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow OMIM:617337
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Cleidocranial Dysplasia 1
Spondylolysis, Respiratory distress, Spondylolisthesis, Scoliosis, Kyphosis OMIM:119600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Odontoonychodermal Dysplasia
Sparse eyebrow, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperker... OMIM:257980
Aortic Arch Interruption
Respiratory distress, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea, Pedal edema ORPHA:2299
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Seizure, Abnormality of the upper urinary tract, Lisch nodules, Abn... ORPHA:636
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies OMIM:607778
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Spondylolysis, Downslanted palpebral fissures, Kyphoscoliosis, Hydronephrosis, Sho... OMIM:304120
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis ORPHA:158681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Spasticity, Seizure, Myoclonus, Elevated circulating creatine kinase concentrat... OMIM:253280
Pudendal Neuralgia
Dysuria, Pollakisuria ORPHA:60039
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Ascites, Peripheral edema, Splenomegaly, Cardiomegaly, Hepatomegaly, Eosinophili... ORPHA:75565
Monilethrix
Perifollicular hyperkeratosis OMIM:158000
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral ptosis, Epicanthus, Scoliosis, Kyphosis, Synophrys OMIM:619557
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Failure to thrive, Difficulty walking, Urethral stricture, Follicular h... ORPHA:158668
17Q11 Microdeletion Syndrome
Webbed neck, Thickened skin, Abnormality of the vertebral column, Seizure, Beaking of vertebral b... ORPHA:97685
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Seizure, Hyponatremia, Patent urachus, Small for gestational age OMIM:618252
Microphthalmia, Syndromic 1
Webbed neck, Renal hypoplasia, Hydroureter, Seizure, Lumbar hyperlordosis, Renal hypoplasia/aplas... OMIM:309800
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Focal Dermal Hypoplasia
Horseshoe kidney, Bifid ureter, Hydronephrosis, Spina bifida occulta, Hydrocephalus, Ureteral dup... OMIM:305600
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Abnormal nasolacrimal system morphology, Hydrocephalus, F... ORPHA:2658
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Vascular Ehlers-Danlos Syndrome
Telecanthus, Cystocele, Hypoplastic lacrimal duct, Hypokalemia, Bladder diverticulum, Epicanthus,... ORPHA:286
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Seizure, Thick eyebrow, Hyperuricemia, Scoliosis, Kyphosis ORPHA:2769
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Seizure, Hemiplegia/hemiparesis, Hepatom... ORPHA:394
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
Osteogenesis Imperfecta, Type Vii
Hydronephrosis, Vertebral compression fracture, Scoliosis OMIM:610682
Patent Urachus
Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv... ORPHA:431341
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Scoliosis, Hypospadias, Kyphosis OMIM:619718
Rodrigues Blindness
Nasal flaring OMIM:268320
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Coffin-Lowry Syndrome
Highly arched eyebrow, Ventriculomegaly, Seizure, Downslanted palpebral fissures, Telecanthus, Th... OMIM:303600
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Choanal Atresia
Respiratory distress ORPHA:137914
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Ptosis, Scoliosis, Kyphosis ORPHA:1969
Congenital Tracheomalacia
Intercostal retractions, Failure to thrive, Apnea, Cardiomegaly, Dyspnea ORPHA:95430
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Hypomagnesemia, Abnormal circulating biopterin concentration, ... ORPHA:1578
Cerebrocostomandibular Syndrome
Webbed neck, Multicystic kidney dysplasia, Kyphosis ORPHA:1393
Scimitar Syndrome
Respiratory distress, Abnormality of the vertebral column ORPHA:185
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Patent urachus, Pe... OMIM:618280
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Scoliosis OMIM:118650
Stickler Syndrome
Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Slender build, Telec... ORPHA:828
Frank-Ter Haar Syndrome
Downslanted palpebral fissures, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Promine... OMIM:249420
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Psoriasiform dermatitis, Kyphosis, Back pain OMIM:106300
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Focal impaired awareness seizure, Biconcave vertebral bodies, Kyphoscoliosis, Seve... OMIM:259770
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Isolated Arrhinia
Respiratory distress, Eyelid coloboma ORPHA:1134
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Primrose Syndrome
Elevated circulating alpha-fetoprotein concentration, Ventriculomegaly, Kyphosis, Seizure, Downsl... OMIM:259050
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis OMIM:620189
Yunis-Varon Syndrome
Sparse eyebrow, Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Upslante... OMIM:216340
Pachyonychia Congenita 3
Follicular hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis OMIM:615726
Marfan Syndrome
Downslanted palpebral fissures, Slender build, Spondylolisthesis, Cachexia, Scoliosis, Kyphosis ORPHA:558
Wrinkly Skin Syndrome
Failure to thrive, Downslanted palpebral fissures, Epicanthus, Scoliosis, Kyphosis OMIM:278250
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Apneic episodes in infancy, Cardiomegaly, Exertional dy... ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Neu1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Neu1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Janus-like role of neuraminidase isoenzymes in inflammation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (May 2022) Neu1tm1a(EUCOMM)Wtsi PMC9323473
Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission. JCI insight (August 2021) Neu1tm1a(EUCOMM)Wtsi PMC8410035
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2017) Neu1tm1a(EUCOMM)Wtsi 28442549

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Neu1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Neu1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Neu1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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