Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Tetraplegia, Hypoproteinemia, Leuk... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Tetraplegia, Hypop... OMIM:603553
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, T lymphocytopenia, Jaundice, Pa... ORPHA:79124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites... OMIM:235255
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Kyphoscoliosis, Babinski sign, Palpebral edema, Short palpebral fissure, Apraxia, Broad-based gai... ORPHA:397709
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Dyspnea, Neoplasm of the t... ORPHA:99868
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Urinary incontinence, Lower limb spasticity, Broad-based gait, Elevated circulating... ORPHA:306511
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, S... OMIM:615895
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Decreased mitochondrial number, Exertional dyspnea, Congenital ptosis, Hyperl... ORPHA:352470
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Steppage gait, Craniofacial dystonia, Elevated circulating creatine kinase concentrat... OMIM:617054
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Urinary incontinence, Tetraplegia, Tremor, Spasticity, Gait disturbance, Spastic p... OMIM:616586
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Seizure, Dehydration, Hyperammonemia, F... ORPHA:79312
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Hypocalcemia, Abnormal renal morphology, Pancreatic lymphangiectasi... ORPHA:1655
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Neonatal hypoproteinemia, Lymphopenia, Edema, Pedal edema OMIM:152800
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Anasarca, Facial edema, Minimal change glomerulonephritis, Hyperlipidemia, Ascit... ORPHA:567546
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Scoliosis, Frequent falls, Action myoclonus, Bilateral tonic-cloni... OMIM:616540
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Scolio... OMIM:614018
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Tip-toe gait, Kyphoscoliosis, Pollakisuria, Tetraplegia, Spasticity,... ORPHA:447760
Autosomal Recessive Spastic Paraplegia Type 76
Limb ataxia, Babinski sign, Lower limb spasticity, Scoliosis, Gait ataxia, Functional abnormality... ORPHA:488594
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio... OMIM:615290
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Inability to walk, Lower limb spasticity, Seizure, Scoliosis, Gait disturbance, Ky... OMIM:611225
Neuraminidase Deficiency
Hepatomegaly, Hydrops fetalis, Vacuolated lymphocytes, Bone-marrow foam cells, Seizure, Ascites, ... OMIM:256550
Microlissencephaly-Micromelia Syndrome
Hypertonia, Palpebral edema, Polyhydramnios, Respiratory distress, Seizure, Failure to thrive, Fe... ORPHA:50810
Brain-Lung-Thyroid Syndrome
Hypospadias, Apraxia, Falls, Webbed neck, Chorea, Incoordination, Vesicoureteral reflux, Respirat... ORPHA:209905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgen... OMIM:214110
Iatrogenic Botulism
Diaphragmatic paralysis, Dyspnea, Cerebral palsy, Ptosis, Urinary retention, Xerostomia ORPHA:254509
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor,... OMIM:610539
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Spinal rigidity, Lower limb spasticity, Seizure, Hyperlordosis, Scoliosis, Elevated... OMIM:617404
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized myoclonic seizure, Inability to walk, Lower limb spasticity, Broad-based gait, Seizur... OMIM:616756
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Johanson-Blizzard Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Failure to thrive, Absent lacrimal pun... ORPHA:2315
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Photosensitive myoclonic seizure, Anemia, Tremor, Hyperlordosis, Gait disturbance, Ne... ORPHA:1192
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Tongue edema, Angioedema, Pharyngeal edema, Facial edema, ... ORPHA:100057
Fatal Familial Insomnia
Apnea, Ataxia, Weight loss, Myoclonus, Urinary retention OMIM:600072
Combined Saposin Deficiency
Babinski sign, Generalized clonic seizure, Hyperkinetic movements, Hepatomegaly, Fasciculations, ... OMIM:611721
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Seizure, Hypertonic dehydration, Hypernatremia, Failure to thrive, Megacystis OMIM:125800
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... ORPHA:167
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Seizure, Hypertonic dehydration, Hypernatremia, Failure to thrive, Megacystis OMIM:304800
Foix-Alajouanine Syndrome
Urinary incontinence, Difficulty walking, Gait imbalance, Neurogenic bladder, Frequent falls, Fun... ORPHA:79093
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Seizure, Ascites,... OMIM:617021
Congenital Myopathy 2A, Typical, Autosomal Dominant
Hypertonia, Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Waddling gait, Facial pals... OMIM:161800
Masa Syndrome
Lower limb spasticity, Paraplegia, Hydrocephalus, Hyperlordosis, Shuffling gait, Kyphosis, Spasti... OMIM:303350
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperventilation, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inabili... OMIM:617799
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Anterior beaking of lumbar vertebrae, Seizure, Scoliosis, Kyphosis, Dystonia, Ataxi... OMIM:230650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Seizure, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal d... ORPHA:71277
Sialidosis Type 2
Hepatomegaly, Hydrops fetalis, Seizure, Tremor, Dyspnea, Ascites, Kyphosis, Ataxia, Splenomegaly,... ORPHA:87876
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati... OMIM:160120
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Abnormal renal glomerulus morphology, Absent eyelashes, Lymphedema, Absent eyebr... OMIM:137940
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Ureterocele, Abnormal blood ion concentration, Edema, Abnormal... ORPHA:79404
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Scoliosis, Tremor, Gene... OMIM:159950
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphedema, Lymphopenia ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Ascit... OMIM:226300
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Seizure, Tremor,... ORPHA:812
Inhalational Botulism
Dyspnea, Ptosis, Paralysis, Urinary retention, Xerostomia ORPHA:254504
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial dislocation, Os odontoideum, Tongue fasci... OMIM:600561
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Spasticity, Frequent falls, Gait ata... OMIM:607317
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Dystonia, Splenomegaly, Myoclonus ORPHA:139406
Spastic Paraplegia 87, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Upper limb spasticity, Dystonia, Lumbar hyper... OMIM:619966
Facioscapulohumeral Dystrophy
Palpebral edema, Hyperlordosis, Elevated circulating creatine kinase concentration, Abnormal eyel... ORPHA:269
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Generalized myoclonic seizure, Palpebral edema, Unilateral renal agenesis, Underdeveloped supraor... ORPHA:221139
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Gait ataxia, Action tremor, Head titubation, Ataxia, Babinski sign, Hypertonia, Tre... ORPHA:99027
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Anasarca, Normochromic anemia, Generalized-onset seizure, Nephropathy, Pleural ef... OMIM:254900
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Respiratory paralysis, Seizure,... OMIM:176000
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia, Hypoproteinemic edema OMIM:226200
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Chorea, Seizure, Scoliosis, Involuntary movements, Synophrys, Thin skin, Downs... OMIM:617804
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Seizure, Tremor, Spasticity, Dystonia, Ataxia, Myoclonus, Abn... OMIM:615924
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Seizure, Spasticity, Failure to thrive, Ataxia, Myoclonus, Short neck OMIM:612015
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Megacystis, Oligohydramnios OMIM:619365
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Wound Botulism
Diaphragmatic paralysis, Dyspnea, Cerebral palsy, Ptosis, Urinary retention ORPHA:178475
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Ichthyosis, Lymphadenopathy, Az... ORPHA:168569
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Respiratory distress, Seizure, Spasticity, Focal tonic seizure... OMIM:617977
Hsd10 Disease
Ventriculomegaly, Seizure, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic parapar... ORPHA:391417
Abnormality of the urinary system, Seizure, Failure to thrive, Megacystis, Hepatic steatosis ORPHA:977
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Anemia, Seizure, Failure to thrive, Unsteady gait, Myoclonus OMIM:610090
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Palpebral edema, Sacral dimple, Broad-based gait, Polycystic kidney dy... OMIM:606232
Acute kidney injury, Anemia, Gait imbalance, Elevated circulating C-reactive protein concentratio... ORPHA:673
Nemaline Myopathy 2
Steppage gait, Spinal rigidity, Polyhydramnios, Inability to walk, Scoliosis, Hyperlordosis, Wadd... OMIM:256030
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Urinary incontinence, Apraxia, Broad-based gait, Chorea, Seizure, Glio... OMIM:607136
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Dyspnea, Bilateral tonic-clonic seizure, Gait ataxia, Left v... OMIM:620145
Atypical Rett Syndrome
Kyphosis, Gait ataxia, Pill-rolling tremor, Seizure, Tremor, Scoliosis, Dystonia, Episodic tachyp... ORPHA:3095
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Seizure, S... OMIM:614254
Baraitser-Winter Cerebrofrontofacial Syndrome
Palpebral edema, Hydroureter, Webbed neck, Telecanthus, Highly arched eyebrow, Scoliosis, Seizure... ORPHA:2995
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Seizure, Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Seizure, Focal tonic seizure, Prominent supraorbital ridges, Limb tremor, Slender bui... OMIM:300699
Cockayne Syndrome Type 3
Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepatic transaminase c... ORPHA:90324
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Ptosis, Paralysis, Urinary retention, Xerostomia ORPHA:228371
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Abnormality of the vertebral column, Cachexia, Scoliosis, Hyperlordosis, Wa... ORPHA:1328
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Solitary Fibrous Tumor
Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Weight loss, Low back pain... ORPHA:2126
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus OMIM:614860
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Truncal ataxia, Seizure, Fail... OMIM:250620
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Hyperlordosis, Gait disturbance, Ptosis, Periodic paralysis, Apnea OMIM:614198
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Cholestasis, Renal cortical microcysts, Colpocephaly, Splenomegaly, Jaundice, Hy... OMIM:614866
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... ORPHA:398063
Macrocephaly-Developmental Delay Syndrome
Palpebral edema, Seizure, Downslanted palpebral fissures, Hepatosplenomegaly, Narrow palpebral fi... ORPHA:397612
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Respiratory dist... ORPHA:26793
Agel Amyloidosis
Bilateral ptosis, Keratoconjunctivitis sicca, Abnormal spleen morphology, Facial palsy, Ataxia, P... ORPHA:85448
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s... OMIM:271630
Ring Chromosome 8 Syndrome
Polyhydramnios, Hydronephrosis, Epicanthus, Abnormality of the ureter ORPHA:1450
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Epicanthus, Myoclonus, Edema, Ventriculomegaly, Status epilepticus OMIM:617507
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Detrusor sphincter dyssynergia, Babinski sign, Urinary incontinence, Kyphoscoliosis... ORPHA:466722
Ceroid Lipofuscinosis, Neuronal, 5
Vacuolated lymphocytes, Seizure, Dysdiadochokinesis, Limb tremor, Ataxia, Loss of ambulation, Myo... OMIM:256731
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea... ORPHA:369840
Pontocerebellar Hypoplasia Type 4
Hypertonia, Polyhydramnios, Seizure, Myoclonus, Central apnea ORPHA:166063
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Hypertonia, Palpebral edema, Limb hypertonia, Highly arched eyebrow, Long eyelashes, Nonprogressi... ORPHA:466688
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Peripheral edema, Hypoalbuminemia ORPHA:2494
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Respiratory distress, Seizure, Ethylmalonic aciduria, Failure to thrive, Increased le... ORPHA:26792
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Respiratory distress, Chorea, Hemi... ORPHA:289916
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetalis, Cholelithiasis, Pleural... ORPHA:846
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hypertonia, Palpebral edema, Hypospadias, Bilateral tonic-clonic seizure ORPHA:79350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Exertional dyspnea, Falls, Hyperlordosis, Dyspnea, Elevated circulating creatine kinase concentra... OMIM:615156
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Seizure, Tremor, Spasticity, Ataxia, Abnormal pyram... ORPHA:79262
Foxg1 Syndrome
Kyphoscoliosis, Focal-onset seizure, Hyperkinetic movements, Difficulty walking, Inability to wal... ORPHA:561854
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky... OMIM:300718
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Seizure, Tremor, I... OMIM:608093
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Unsteady gait, Waddling gait, Elevated circulating creatine kinase concentration, Lumbar hyperlor... ORPHA:280333
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat... ORPHA:69735
Atypical Juvenile Parkinsonism
Bradykinesia, Hypomimic face, Akinesia, Inability to walk, Resting tremor, Seizure, Scoliosis, Sh... ORPHA:391411
Macs Syndrome
Palpebral edema, Ichthyosis, Scoliosis, Decreased body weight, Downslanted palpebral fissures, Sp... OMIM:613075
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Oligohydramnios, Obesity, Edema, Hypoalbuminemia, Facial edema, ... ORPHA:86816
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Tip-toe gait, Hyperlordosis, Waddling gait, Elevated circulating creatine kinase concentration, F... ORPHA:62
Craniofaciofrontodigital Syndrome
Large for gestational age, Polyhydramnios, Respiratory distress, Scoliosis, Seizure, Dyspnea, Low... ORPHA:363705
2p15-16.1 microdeletion syndrome
Ptosis, Downslanted palpebral fissures, Hydronephrosis, Telecanthus DECIPHER:70
Diaphragmatic paralysis, Urinary retention, Cerebral palsy, Xerostomia ORPHA:1267
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Bilateral tonic-clonic seizure, Focal hemiclonic seiz... OMIM:616981
Foxg1 Syndrome Due To 14Q12 Microdeletion
Palpebral edema, Scoliosis, Seizure, Kyphosis, Downslanted palpebral fissures, Epicanthus, Blepha... ORPHA:261144
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Truncal ataxia, Seizur... OMIM:616817
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait, Abnormal lower motor neuron morphology OMIM:611067
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Writer's cramp, Torticollis, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Dystonia 6, Torsion
Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:162350
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Absence seizure with eyelid myoclonia, Tremor, Truncal ataxia, Bilateral tonic-clonic sei... OMIM:618587
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Free Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Oculomotor apraxia, Seizure, Spasticity, Athetosis, Ascites, Gait ... ORPHA:834
Myosclerosis, Autosomal Recessive
Spinal rigidity, Facial palsy, Elevated circulating creatine kinase concentration, Thoracolumbar ... OMIM:255600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Tip-toe gait, Steppage gait, Difficulty walking, Gait imbalance, Broad-based gait, Poor fine moto... ORPHA:435387
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Hippocampal sclerosis, Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure w... OMIM:615400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Palpebral edema, Focal-onset seizure, Elevated circulating hepatic transaminase concentration, Ce... OMIM:619475
X-Linked Intellectual Disability, Shashi Type
Palpebral edema, Seizure, Prominent supraorbital ridges, Obesity, Blepharophimosis ORPHA:85286
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Ataxia, Respiratory distress OMIM:619099
20Q11.2 Microduplication Syndrome
Palpebral edema, Sacral dimple, Underdeveloped supraorbital ridges, Seizure, Lingual dystonia, Pt... ORPHA:363659
Nemaline Myopathy 5C, Autosomal Dominant
Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Waddling gait, Slender build, Weaknes... OMIM:620389
Sandhoff Disease
Hepatomegaly, Seizure, Kyphosis, Failure to thrive, Ataxia, Splenomegaly ORPHA:796
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Polyhydramnios, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Spastic tetraplegia OMIM:619971
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Tip-toe gait, Nocturnal hypoventilation, Exercise-induced myoglobinuria, Difficulty walking, Scol... OMIM:607155
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Beaking of vertebral bodies T12-L3, Palpebral edema,... OMIM:252500
Spastic gait, Babinski sign, Urinary incontinence, Spasticity, Urinary urgency, Urinary bladder s... ORPHA:139399
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Astrocytosis, Spastic tetraparesis, Frequent falls, Gait a... ORPHA:225154
Spinal Cord Injury
Vertebral compression fracture, Spasticity, Urinary bladder sphincter dysfunction, Hypercalcemia,... ORPHA:90058
Developmental And Epileptic Encephalopathy 1
Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Erratic myoclonus, Focal motor se... OMIM:308350
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Seizure, Gait ataxia, Rigi... ORPHA:248111
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Vertebral compression fracture, Abnormality of the ... ORPHA:29073
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Fasciculations, Hyperlordo... ORPHA:52430
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:608105
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Seizure, Tremor, Spasticity, Gait disturbance, Dyst... OMIM:614561
Dengue Fever
Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia ORPHA:99828
Nizon-Isidor Syndrome
Hypospadias, Seizure, Downslanted palpebral fissures, Sparse eyebrow, Unilateral ptosis, Thoracol... OMIM:618872
Bohring-Opitz Syndrome
Annular pancreas, Severe failure to thrive, Cardiomegaly, Cholelithiasis, Inability to walk, Faci... ORPHA:97297
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Vacuolated lymphocytes, Seizure, Bilateral tonic-cl... OMIM:204200
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Inability to walk, Dystonia, Myoclonus, Spastic tetraplegia, Status epile... OMIM:618285
Osteopetrosis, Autosomal Recessive 5
Ascites, Splenomegaly, Ventriculomegaly, Hypertonia, Pancytopenia, Hypocalcemia, Hydrocephalus, S... OMIM:259720
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Polyhydramnios, Seizure, Spasticity, Hyperalaninemia, Cerebral palsy, ... OMIM:619847
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Scoliosis, Tremor, Myoclonic seizure, ... OMIM:616421
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Tremor, Increased serum pyruvate, Episodic ataxia, Hyperalaninemia, Apneic episodes prec... OMIM:312170
Thyrocerebrorenal Syndrome
Seizure, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia, Myoclonus, Renal insuffic... ORPHA:3327
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Difficulty walking, Chorea, Incoordination, Lingual dystonia, Poor motor coordinat... OMIM:500003
Nemaline Myopathy 7
Kyphoscoliosis, Waddling gait, Gait disturbance, Frequent falls, Weakness of facial musculature, ... OMIM:610687
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Seizure, Athetosis, Scoliosis, Gait disturbance, Rigidity, Loss of ambulation,... OMIM:618241
Leukocyte Adhesion Deficiency Type Ii
Palpebral edema, Hepatomegaly, Anemia, Broad eyebrow, Recurrent urinary tract infections, Seizure... ORPHA:99843
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Hydrocephalus, Vacuolated lymphocytes, Seizure, Ascites, Nephrotic... OMIM:269920
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Seizure,... OMIM:603552
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Urinary incontinence, Apraxia, Abnormal upper motor neuron morphology, Seizure, Sp... OMIM:221770
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Hydronephrosis, Megacystis, Oligohydramnios, Hepatic failure OMIM:619431
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Congenital Myopathy 16
Spinal rigidity, Scoliosis, Tongue tremor, Postural tremor, Lumbar hyperlordosis OMIM:618524
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Hyperkinetic movements, Polyhydramnios, Respiratory distress, Seizur... OMIM:616271
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Urinary incontinence, Progressive cerebellar ataxia, Oc... OMIM:183090
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Tongue fasciculations, Diaphragmatic paralysis, Seizure, Scoliosis, Elevate... OMIM:614399
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Tremor, Dystonia, Myoclonus OMIM:619651
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Tip-toe gait, Broad-based gait, Abnormal macrophage morphology, Scoliosis, Waddling gait, Elevate... ORPHA:353
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Apnea, Myoclonus, V... OMIM:617290
Macdermot-Winter Syndrome
Highly arched eyebrow, Ventriculomegaly, Seizure, Hydronephrosis OMIM:247990
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Seizure, Splenomegaly OMIM:619813
Baralle-Macken Syndrome
Urinary incontinence, Focal-onset seizure, Inability to walk, Acanthosis nigricans, Spasticity, K... OMIM:619255
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, Ch... ORPHA:485350
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Seizure, Infantile spasms, Kyphosis, Long palpebral fissure, Hydronephrosis, Apnea, Ve... OMIM:619797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Inability to walk, Scoliosis, Hyperlordosis, Facial palsy, Elevated circulating creatine kinase c... OMIM:613156
Epileptic spasm, Focal motor seizure, Seizure, Focal tonic seizure, Gliosis, Hemiparesis, Atonic ... ORPHA:99802
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Homocystinuria, Hyperhomocystinemia, Respiratory distress, Megaloblastic anemia, Seizur... OMIM:250940
Proteus Syndrome
Kyphoscoliosis, Hyperkeratosis, Spinal canal stenosis, Downslanted palpebral fissures, Lymphangio... OMIM:176920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Hydroureter, Duplicated collecting system, Hyperkeratosis, Vesicoureteral ref... OMIM:604292
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Frequent ... OMIM:301020
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Developmental And Epileptic Encephalopathy 23
Telecanthus, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Long eyelashes, Syn... OMIM:615859
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Kyphosis, Thickened s... ORPHA:354
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Increased serum pyruvate, Ataxia, Myoclonus OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Difficulty walking, Scoliosis, Hyperlordosis, Facial palsy, Elevated circulating cr... OMIM:606612
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Hepatomegaly, Anemia, Methylmaloni... OMIM:251100
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Seizure, Ataxia, Myoclonus OMIM:600143
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Respiratory paralysis, Tetraplegia, Tremor, Decreased u... ORPHA:79102
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Seizure, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:617829
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port... ORPHA:824
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Seizure, Proximal tubulopathy, Gait ataxia, Failure to thrive, We... OMIM:612075
Ck Syndrome
Scoliosis, Seizure, Hyperlordosis, Kyphosis, Almond-shaped palpebral fissure, Slender build, Epic... OMIM:300831
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Hyperphenylalaninemia, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Peho Syndrome
Palpebral edema, Hydrocephalus, Seizure, Infantile spasms, Epicanthus, Peripheral edema, Ventricu... ORPHA:2836
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Polyhydramnios, Seizure, Spasticity, Gliosis, Myoclonus OMIM:225753
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Acanthosis nigricans, Tetraparesis, Seizure, Tremo... ORPHA:363400
Bardet-Biedl Syndrome 16
Respiratory distress, Renal cyst, Renal agenesis, Obesity, Renal dysplasia, Stage 5 chronic kidne... OMIM:615993
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress, Scoliosis, Seizure, Failure to thrive OMIM:300934
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Involuntary move... OMIM:606703
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:26791
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Myoclonus, Babinski sign, Seizure, Basal ganglia gliosis, Anisocytosis, Weight loss, Dysm... OMIM:301310
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Spinal rigidity, Inability to walk, Chorea, Pollakisuria, Hyperlordosis, Muscular e... ORPHA:268
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress, Seizure, Increased serum pyruvate, Organic aciduria, Epicanthus OMIM:614741
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Ptosis, Downslanted pa... OMIM:615761
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:618497
Spastic Paraplegia 10, Autosomal Dominant
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Scoliosis, Knee clonus,... OMIM:604187
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Seizure, Kyphosis OMIM:300518
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M... OMIM:616139
Gaucher Disease Type 2
Generalized myoclonic seizure, Hepatomegaly, Respiratory distress, Spasticity, Dystonia, Splenome... ORPHA:77260
Isolated Glycerol Kinase Deficiency
Scoliosis, Seizure, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:408
Visceral Myopathy 1
Polyhydramnios, Pancreatitis, Vesicoureteral reflux, Hydronephrosis, Megacystis, Urinary retention OMIM:155310
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Ataxia, Long eyelashes, Upper eyelid edema OMIM:616819
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Seizure, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysi... OMIM:606777
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Ankle clonus, Upper lim... OMIM:614409
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... OMIM:619991
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Abnormality of extrapyramidal motor function, Seizure, Spasticity, Hyperkeratosis, ... ORPHA:79279
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor, Elevated urinary 7-bi... OMIM:264070
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Myopathy, Distal, 1
Tip-toe gait, Scoliosis, Facial palsy, Elevated circulating creatine kinase concentration, Gait d... OMIM:160500
Developmental And Epileptic Encephalopathy 40
Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis, Small for gestational age OMIM:617065
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Hepatomegaly, Pancytopenia, Decreased body weight, Ataxia, Thrombo... OMIM:231000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis OMIM:600175
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Failure to thrive, Obesity, Upper eyelid edema ORPHA:412035
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Seizure, Tremor, Urinar... OMIM:600363
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Tremor, T... OMIM:619092
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Bilateral tonic-cloni... ORPHA:254881
Acute Transverse Myelitis
Babinski sign, Urinary incontinence, Decreased circulating copper concentration, Paraplegia, Abno... ORPHA:139417
Ceroid Lipofuscinosis, Neuronal, 1
Vacuolated lymphocytes, Seizure, Spasticity, Ataxia, Myoclonus OMIM:256730
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Difficulty walking, Waddling gait, Hyperlordosis ORPHA:363454
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Hyperkeratosis, Abnormal lymphocyte morphology, Abnormal eyelid mo... ORPHA:2584
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to walk, Writer's cramp... OMIM:128100
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Hemiparesis, Dystoni... ORPHA:352596
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios, Myoclonus OMIM:619303
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral ptosis, Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inabili... ORPHA:330050
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Urinary incontinence, Focal myoclonic seizure, Difficulty walking,... ORPHA:464282
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Hepatomegaly, Proximal tubulopathy, Dehydration, Ptosis, Failure to thrive, Ataxia, Myo... OMIM:560000
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Juvenile Sialidosis Type 2
Abnormality of the kidney, Generalized myoclonic seizure, Hepatomegaly, Lower limb spasticity, Ab... ORPHA:93399
Huntington Disease
Bradykinesia, Babinski sign, Difficulty walking, Decreased body mass index, Gait imbalance, Inabi... ORPHA:399
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Seizure, Tremor, Spasticity, Poor fine motor coordination, Generalized-onset seizure, Myo... ORPHA:79263
Rigid Spine Syndrome
Scoliosis, Spinal rigidity, Hyperlordosis, Waddling gait ORPHA:97244
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Focal motor seizure, ... ORPHA:599373
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Thickened skin, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropen... OMIM:617303
Gapo Syndrome
Palpebral edema, Underdeveloped supraorbital ridges, Abnormal form of the vertebral bodies, Oligo... ORPHA:2067
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Abnormal renal corticomedullary differentiation, Left ventricular hypertrop... OMIM:616733
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Urinary incontinence, Astrocytosis, Gait disturbance, Rigidity, Dystonia, Myoclonus OMIM:600795
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Respiratory distress, Progressive extrapyramidal muscular ri... ORPHA:240103
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An... ORPHA:635
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Elevated ur... OMIM:256700
Ascher Syndrome
Ptosis, Abnormal eyelid morphology, Blepharophimosis, Upper eyelid edema ORPHA:1253
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... ORPHA:231226
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Urinary incontinence, Dysuria, Abnormality of the urethra ORPHA:2795
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Predominantly lower limb lymphedema, Neonatal hyperbilirubinemia, Aplasia/Hypoplasi... ORPHA:293939
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Thoracic kyphosis, Elevated circulating creatine kinase concentration, Left ve... ORPHA:206546
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Ataxia, Myoclonus, Failure to thrive in ... OMIM:619065
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Hypomimic face, Oromandibular dystonia, Scissor gait, Spasticity, Tr... ORPHA:521406
Sacral Defect With Anterior Meningocele
Hydromyelia, Anterior sacral meningocele, Hydrocephalus, Rectal abscess, Neurogenic bladder, Hemi... OMIM:600145
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Respiratory distress, Seizur... OMIM:251000
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Spastic hemiparesis, Hyperammonemia, Leu... ORPHA:20
Alexander Disease Type I
Hydrocephalus, Cachexia, Seizure, Spasticity, Scoliosis, Failure to thrive, Ataxia, Abnormal pyra... ORPHA:363717
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Right hemiplegia, Seizure, T... OMIM:607426
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Short ... ORPHA:2522
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Truncal obesity, Seizure, Thoracic kyphosis, Upslanted palpebral fissure, Thoraco... ORPHA:3041
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Failure to thrive, Myoclonus, Ventriculomegaly, Dysmetria OMIM:618251
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Urinary incontinence, Seizure, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:620094
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Respiratory distress, Frontalis muscle weakness, Facial palsy, Decreased body wei... OMIM:300580
Kikuchi-Fujimoto Disease
Palpebral edema, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated ... ORPHA:50918
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Waddling gait, Facial palsy, Kyphosis, Ptosis, Oligohydramnios OMIM:255200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Epilepsia partialis continua, Elevated circulating hepatic transamin... OMIM:203700
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Akinesia, Ichthyosis, Polyhydramnios, Respiratory distress, Seizure, Hyperk... OMIM:608013
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Urinary incontinence, Chorea, Seizure, Tremor, Athetosis, Dysdiadochokinesis, Gait ... OMIM:213600
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Glycine Encephalopathy 1
Hyperglycinuria, Seizure, Hyperglycinemia, Myoclonus OMIM:605899
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Torticollis, Respiratory distress, Dysdiadochokinesis, Blepharospasm, Gait distur... ORPHA:98805
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ptosis, Ataxia, Myoclonus, Abnormal pyramidal sign... OMIM:612016
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Spinal rigidity, Ichthyosis, Scoliosis, Hyperlordosis, Vocal ... ORPHA:98863
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Hypertonia, Abnormal circulating threonine concentr... ORPHA:79096
Myoclonus, Intractable, Neonatal
Chorea, Dandy-Walker malformation, Athetosis, Ptosis, Apnea, Myoclonus, Clonic seizure OMIM:617235
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Facial palsy, Elevated circulating creatine kinase concentration, Gait disturbance, Back pain, Dy... OMIM:167320
Phosphoserine Aminotransferase Deficiency
Hyposerinemia, Hypertonia, Seizure, Hypoglycinemia, Apnea, Myoclonus OMIM:610992
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Myoclonus, Status epilepticu... OMIM:615338
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Status epilepticus, Choreoathetosis OMIM:609056
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenom... OMIM:105200
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, Failure to thrive, Epicanthus, Horseshoe kidney OMIM:617352
Paroxysmal Hemicrania
Ptosis, Focal sensory seizure with olfactory features, Conjunctival hyperemia, Palpebral edema ORPHA:157835
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Rin2 Syndrome
Downslanted palpebral fissures, Scoliosis, Infra-orbital fold, Upper eyelid edema ORPHA:217335
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Thickened skin, Bone marrow hypocellularity, Leukopenia, Hydrocephalus, Hepatosp... ORPHA:505248
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Polyhydramnios, Dandy-Walker malformation, Scoliosis, Hemivertebrae, Punctate ver... OMIM:302960
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Normocytic anemia, Hyperkinetic movements, Methylmalonic acidemia, Homocystinuria, Hy... OMIM:236270
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Verteb... ORPHA:1834
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Tremor, Gait disturbance, Kinetic tremor, Ventriculomegaly OMIM:611808
Typical Nemaline Myopathy
Nocturnal hypoventilation, Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Waddling ga... ORPHA:171436
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Dyspnea, Involuntary movement... ORPHA:98810
X-Linked Intellectual Disability, Stevenson Type
Palpebral edema, Thick eyebrow, Obesity ORPHA:85325
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Failure to thrive, Ataxia, Epicanthus, Short neck OMIM:618951
Sunct Syndrome
Facial edema, Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Epileptic spasm, Hypertonia, Ichthyosis, Seizure, Spastic tetraparesis, Failure to... ORPHA:284417
X-Linked Intellectual Disability, Schimke Type
Spasticity, Vesicoureteral reflux, Hydronephrosis, Failure to thrive in infancy, Choreoathetosis ORPHA:85285
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Gait disturbance ORPHA:2501
Hyperekplexia 4
Kyphoscoliosis, Hypertonia, Seizure, Infantile spasms, Abnormal circulating acylcarnitine concent... OMIM:618011
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Spinal rigidity, Difficulty walking, Respiratory distress, Scoliosis, Waddling gait, Elevated cir... ORPHA:86812
Wieacker-Wolff Syndrome
Apraxia, Oculomotor apraxia, Seizure, Spasticity, Hyperlordosis, Scoliosis, Kyphosis, Facial pals... OMIM:314580
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Anemia, Exertional dyspnea, Respiratory distress, Truncal... OMIM:220110
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Predominantly lower limb lymphedema, Absent eyelashes, Absent eyebrow, Thin skin... OMIM:607823
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... ORPHA:231214
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Infection associated neutropenia, Hypertonia, Elevated circulating h... ORPHA:445038
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Pleural effusion, Hyperechog... OMIM:603278
Monosomy 22Q13.3
Palpebral edema, Sacral dimple, Seizure, Vesicoureteral reflux, Lymphedema, Long eyelashes, Ptosi... ORPHA:48652
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Fasciculations, Scoliosis, Tremor, Polyminimyoclonus, Vocal cord paresis, Edema, ... OMIM:619574
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Bone marrow hypocellularity, Lymphopenia, Hemiplegia, Stage 5 chronic kidney dise... ORPHA:1830
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Fasciculations, Scoliosis, Mildly elevated creatine kinase, Oligohydramnios ORPHA:1143
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Increased serum pyruvate, Involuntary movements ORPHA:238329
Ck Syndrome
Kyphoscoliosis, Seizure, Almond-shaped palpebral fissure, Slender build, Epicanthus, Upslanted pa... ORPHA:251383
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Clonus, Statu... ORPHA:1949
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Spinal rigidity, Ichthyosis, Scoliosis, Hyperlordosis, Vocal ... ORPHA:261
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Spinal rigidity, Ichthyosis, Scoliosis, Hyperlordosis, Vocal ... ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Spasticity, Increased serum pyruvate, Ptosis, Myoclonic seizure, Apnea, Ataxia, Myoclonus OMIM:618225
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Polyhydramnios, Seizure, Neurogenic bladder, Vocal cord paralysis, Spasticity, S... ORPHA:500144
King-Denborough Syndrome
Kyphoscoliosis, Bilateral ptosis, Webbed neck, Scoliosis, Thoracic kyphosis, Elevated circulating... OMIM:619542
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Facial hypotonia, Seizure, Spasticity, Scoliosis, Bilateral tonic-clonic seizure, ... ORPHA:364028
Tarp Syndrome
Short palpebral fissure, Athetoid cerebral palsy, Underdeveloped supraorbital ridges, Broad-based... ORPHA:2886
Congenital Myopathy 19
Facial hypotonia, Scoliosis, Gait disturbance, Ptosis, Hydronephrosis, Renal atrophy OMIM:618578
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Seiz... OMIM:608799
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Seizure, Tremor, Spasticity, Involuntary movements, Ptosis, ... ORPHA:442835
Hypervalinemia, Failure to thrive, Hyperkinetic movements, Valinuria OMIM:277100
Hereditary Geniospasm
Abnormality of mentalis muscle, Chin myoclonus ORPHA:53372
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Hepatomegaly, Anemia, Hyperuricemia... OMIM:246450
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Seizure, Gait disturbance, Long eyelashes, Speech aprax... OMIM:609757
Myoclonus, Familial, 2
Limb myoclonus, Seizure, Dystonia OMIM:618364
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Oligohydramn... OMIM:619351
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Inability to walk, Truncal ataxia,... OMIM:618877
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Holocarboxylase Synthetase Deficiency
Respiratory distress, Seizure, Organic aciduria, Keratoconjunctivitis, Hyperammonemia, Thrombocyt... ORPHA:79242
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypos... OMIM:301056
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Babinski sign, Hepatomegaly, Ichthyosis, Truncal ataxia, Seizure, Spasticity, Myoclonus, Ascites,... OMIM:301072
Spastic gait, Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Hemiplegia, Anterior beaking... OMIM:230000
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Edema ORPHA:498359
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Respiratory d... OMIM:212140
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hydrocephalus, Seizure, Thrombocytopenia, Hepatosplenomegaly, Facial paraly... OMIM:259710
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Respiratory distress, Tetraplegia, Seizure, Hyperalani... ORPHA:254913
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Childhood-Onset Spasticity With Hyperglycinemia
Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early childhood, Nonket... ORPHA:401866
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Folinic Acid-Responsive Seizures
Hypertonia, Generalized myoclonic seizure, Difficulty walking, Broad-based gait, Respiratory dist... ORPHA:79097
Congenital Sialidosis Type 2
Abnormality of the kidney, Hepatomegaly, Underdeveloped supraorbital ridges, Hydrocephalus, Seizu... ORPHA:93400
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Seizure, Kyphosis, Prominent supraorbital ridges, Ptos... OMIM:301900
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Palpebral edema, Enlarged lacrimal glands, Pancreatitis, Cholangitis, ... ORPHA:449563
Myopathy And Diabetes Mellitus
Tip-toe gait, Babinski sign, Progressive cerebellar ataxia, Inability to walk, Respiratory distre... ORPHA:2596
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Hypomimic face, Inability to walk, Lower limb spasticity, Oromotor apraxia, Broad-b... OMIM:617854
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Spina bifida occulta, Incoordination, Seizure, Tremor, Hydr... OMIM:618060
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thoracic kyphosis, Waddling gait, Dyspnea, Foca... OMIM:242900
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Spastic tetraparesis, Ascites, Lower lim... OMIM:619487
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Waddling gait, Ptosis, Weakness of facial musculature, Mildly elevated ... OMIM:616228
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Platyspondyly, Hypospadias, Polyhydramnios, Webbed neck, Telecanthus, Pleural ef... OMIM:616897
Thyrocerebroretinal Syndrome
Seizure, Nephritis, Thrombocytopenia, Ataxia, Myoclonus, Slurred speech OMIM:274240
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Failure to thrive, Splenomegaly, Aminoac... OMIM:230350
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Respiratory distress, Pleural effusion, Dyspnea, Weight loss ORPHA:50251
Spinocerebellar Ataxia 48
Babinski sign, Urinary incontinence, Chorea, Cachexia, Tremor, Bilateral tonic-clonic seizure, Ga... OMIM:618093
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema ORPHA:1259
Den Hoed-De Boer-Voisin Syndrome
Focal-onset seizure, Ataxia, Lateral ventricle dilatation, Myoclonus, Ventriculomegaly, Oligohydr... OMIM:619229
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Steppage gait, Lower limb spasticity, Tongue fasciculations, Scoliosis, Hyperlordos... OMIM:620285
Parkes Weber Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Paraplegia, Abnormal lymphatic ves... ORPHA:90307
Myopathy With Extrapyramidal Signs
Hypervalinemia, Elevated circulating hepatic transaminase concentration, Chorea, Ataxia, Splenome... OMIM:615673
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Seizure, Scoliosis... OMIM:611890
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Polyhydramnios, Hypoplasia of penis, Ascites, Abno... ORPHA:1046
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait OMIM:616921
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Plat... OMIM:609223
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Spinal rigidity, Difficulty walking, Hyperlordosis, Elevated circulating creatine k... ORPHA:267
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Bilateral ptosis, Elevated circulating hepatic transaminase concentration, Generalized aminoacidu... ORPHA:404454
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Anemia,... OMIM:251110
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Seizure, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Chor... OMIM:612126
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Webbed neck, Highly arched eyebrow, Seizure, Scoliosis, L... OMIM:616737
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive protein concentration, Re... OMIM:612852
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Respiratory distress ORPHA:141152
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Hypomimic face, Ankle clonus, Resting tremor... OMIM:612953
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Seizure, Spasticity, Kyphosis, Gait disturbance, Prominent supraorbital ridges, Synoph... ORPHA:2429
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Respiratory distress, Tremor, Parkinsonism with favorable response to dopami... ORPHA:240085
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter, Abdominal situs inversus ORPHA:2604
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Scoliosis, Tremor, Gait ataxia, Intention tremor, Ataxi... OMIM:616505
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Methylmalonic acidemia, Inability to walk, Loss of ability to walk in ear... OMIM:612073
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Telecanthus, Infantile spasms, Long e... ORPHA:411986
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Inability to walk, Spasticity, Generalized-onset seizure, Hyperlordosis, Scoliosis,... OMIM:618443
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Scoliosis, Involuntary moveme... OMIM:618218
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Gait disturbance ORPHA:157973
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Parakeratosis, Ichthyosis, Acanthosis nigricans, Xerostomia, Neurogenic bladder, T... OMIM:618527
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Facial myokymia, Kyphosis, Failure to thrive, Ataxia OMIM:620007
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ptosis, Ataxia, Myoclonus, Postural tremor OMIM:620158
Enlarged kidney, Abnormal liver lobulation, Lumbosacral meningocele, Webbed neck, Respiratory dis... OMIM:608022
Reni Syndrome
Hypertriglyceridemia, Ichthyosis, Seizure, Focal segmental glomerulosclerosis, Podocyte foot proc... OMIM:617575
Congenital Enterovirus Infection
Hydrops fetalis, Anemia, Polyhydramnios, Respiratory distress, Abnormal macrophage morphology, Ch... ORPHA:292
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Seizure, Epicanthus, Kyphosis ORPHA:85288
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Hypomimic face, Torticollis, Gait ataxia, Ptosis, Limb myoclonus, Post... OMIM:619862
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Chorea, Act... OMIM:615273
Congenital Syphilis
Hydrops fetalis, Pancreatitis, Anemia, Lymphadenopathy, Hydrocephalus, Seizure, Nephrotic syndrom... ORPHA:499009
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Unsteady gait, Elevated circulating creatine kinase concentration, Lumbar hyp... OMIM:613818
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Blepharochalasis And Double Lip
Blepharochalasis OMIM:109900
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Hydrocephalus, Tongue fasciculations, Seizure, Spasticity, Synoph... OMIM:614969
Joubert Syndrome 37
Hepatomegaly, Oculomotor apraxia, Ptosis, Obesity, Hydronephrosis, Micropenis, Lumbar hyperlordosis OMIM:619185
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Tremor, Increased mitochondrial number... OMIM:615578
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Scol... ORPHA:93952
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperkinetic movements, Di... OMIM:615356
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Dystonia, Myoclonus ORPHA:324588
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Ascites, Renal cyst, Polycystic liver disease, Increased total bilirubin, Back pain OMIM:174050
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive, Weakness of ... ORPHA:536516
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Hepatomegaly, Chylopericardium, Respiratory distress, Pleural effusion, Ascites,... ORPHA:2414
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Dandy-Walker malformation, Seizure, Vesicoureteral reflux, Spasticity, Dilated fourth... ORPHA:3078
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Joubert Syndrome 35
Oculomotor apraxia, Telecanthus, Highly arched eyebrow, Recurrent urinary tract infections, Renal... OMIM:618161
Palpebral edema, Acanthosis nigricans, Long penis, Dysuria, Cerebral palsy, Kyphosis, Synophrys, ... ORPHA:963
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Hypertriglyceridemia, Spinal rigidity, Ichthyosis, Scoliosis, Hyperlordosis, Waddli... ORPHA:98855
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myoclonic seizure, Bilater... ORPHA:263516
Wolfram Syndrome 1