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Gene: Pcmt1 MGI:97502

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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:
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
Synonyms:
PIMT,  protein carboxyl methyltransferase

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 Pcmt1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcmt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Tremo... OMIM:614018
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst sup... OMIM:266100
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati... OMIM:617389
Glycine Encephalopathy 2
Seizure, Respiratory failure, EEG with burst suppression, Nonketotic hyperglycinemia OMIM:620398
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Thr... OMIM:610539
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure OMIM:614023
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, ... OMIM:615924
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Seizure, Hypertriglyceridemia, Dysplastic corpus callosum OMIM:618010
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Abnormal motor nerve co... OMIM:614399
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, H... OMIM:232700
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:245570
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Elevated circulating creatine kinase concentration, Tremor, Respirator... OMIM:159950
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic... ORPHA:725
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Bilateral tonic-clonic seizure, Adrenal hyperplasia, Epistaxis, Spastic paraplegi... ORPHA:369929
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Scoliosis, Generalize... OMIM:616540
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Intellectual Developmental Disorder, X-Linked 82
Seizure, Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... ORPHA:99802
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5-S1, Atlantoaxial ins... OMIM:600561
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short stature, Elevated circulating creati... OMIM:610717
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 59
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform ... OMIM:617904
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Respiratory insufficiency du... OMIM:300717
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:603552
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Reduced C-peptid... OMIM:618856
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Short stature, Short neck, Respiratory insufficiency, Seizure, Myoclonus, S... OMIM:612015
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Respiratory insufficiency, Myoclonus ORPHA:139406
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-... OMIM:607616
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Increased serum serotonin, Truncal ataxia OMIM:608636
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, H... OMIM:619701
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... OMIM:608105
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... ORPHA:363400
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Interictal epile... OMIM:300699
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Kyphoscoliosis, Focal-onset seiz... ORPHA:561854
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclo... OMIM:617065
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... ORPHA:2382
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr... OMIM:614480
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Short stature, Elevated circulating creatine kinase concentration, Hyperlo... OMIM:617404
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus OMIM:617171
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, EEG wit... ORPHA:168486
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, ... ORPHA:306511
East Syndrome
Generalized-onset seizure, Ataxia, Seizure, Hypokalemia, Hyperaldosteronism, Increased circulatin... ORPHA:199343
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizu... ORPHA:71277
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, Typical absence... OMIM:620145
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Landau-Kleffner Syndrome
Speech apraxia, Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic... ORPHA:98818
Potocki-Lupski Syndrome
Small for gestational age, Short stature, EEG abnormality, Seizure, Scoliosis, Hypocholesterolemi... OMIM:610883
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Apnea, Hyposerinemia, Seizure, Hypertonia, Myoclonus OMIM:610992
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Rigidity, Growth ... OMIM:619057
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... OMIM:617872
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Clumsiness OMIM:610003
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... OMIM:609056
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoa... OMIM:264350
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, Status epilepticus,... OMIM:618285
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus, EEG abnormality OMIM:600143
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Involuntary movements, Apnea, Multifocal epileptiform discharges,... ORPHA:209370
Hyperekplexia 4
Kyphoscoliosis, Hypsarrhythmia, Seizure, Respiratory failure, Hypertonia, Myoclonus OMIM:618011
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Epileptic spasm, Failure to thrive in infancy, Spastic tetrapa... ORPHA:284417
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Combined Saposin Deficiency
Hepatomegaly, Generalized clonic seizure, Splenomegaly, Babinski sign, Hyperkinetic movements, My... OMIM:611721
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... OMIM:617082
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... OMIM:620085
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Seizure, Upper ... OMIM:611225
Benign Familial Neonatal Epilepsy
Apnea, Clonus, Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-... ORPHA:1949
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Intention tremor ORPHA:53372
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Short stature ORPHA:366
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, EEG abn... OMIM:271980
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Cheyne-Stokes respiration, Respiratory insufficiency, Seizure, Respir... OMIM:618328
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclo... OMIM:616341
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Elevated circulating creatine kinase concentration, Abnormal respiratory ... ORPHA:266
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, EEG with burst suppression,... OMIM:617290
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Seizure, Respiratory failure... OMIM:619386
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Tremor, Apneic episodes precipitated by illn... OMIM:312170
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Generalized-onset seizure, Ataxia, Elevated circulating creatine kinase con... OMIM:620166
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure OMIM:611092
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, EEG abnormality, Myoclon... OMIM:606777
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Elevated circulating creatine kinase concentration, Rigidity, Respiratory insufficiency, R... OMIM:613869
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Abnormal ... ORPHA:352596
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Vitamin D-Dependent Rickets, Type 3
Growth delay, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia OMIM:619073
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, EEG with generalized spikes, Myo... OMIM:613855
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens... ORPHA:86909
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Respiratory failure requiring assisted ventilation, Myoclonus OMIM:619303
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Tonic seizure, Focal motor seizur... OMIM:617711
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... ORPHA:79096
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... OMIM:267700
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Re... OMIM:619013
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Err... OMIM:619971
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ele... OMIM:613954
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... ORPHA:163721
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Glycine Encephalopathy 1
Seizure, Agenesis of corpus callosum, Hyperglycinemia, Myoclonus OMIM:605899
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, EEG abnormality, Hyperkinetic movements, Foc... OMIM:614254
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Short stature, Focal-... ORPHA:289266
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Seizure, Status epilepticus, Focal i... ORPHA:330050
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Short stature, Babinski sig... OMIM:619065
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Parti... OMIM:619302
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration, Spinal rigidity OMIM:604801
Atypical Rett Syndrome
Sudden episodic apnea, Involuntary movements, Infantile spasms, Episodic tachypnea, Tremor, Kypho... ORPHA:3095
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Incoordination, Bilateral tonic-clonic seizure, Tremor, Focal-... ORPHA:36387
Linear Verrucous Nevus Syndrome
Seizure, Scoliosis, Hypophosphatemia ORPHA:2611
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, ... OMIM:256731
Developmental And Epileptic Encephalopathy 99
Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur... OMIM:619606
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenom... OMIM:612526
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Ataxia, Short stature, Seizure, Hypokalemia, Dysdiadochokinesis, Increased circulating renin leve... OMIM:612780
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Short stature, Babinski sign, Spastic tetraple... OMIM:619847
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Spast... OMIM:619301
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Increased body weight, Sei... OMIM:182290
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Small for gestational age, Kyphosis, Seizure, Increased serum serotonin ORPHA:85288
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Steato... OMIM:246700
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperaldosteronism, Increased circulating... OMIM:214700
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Slurred speech, EEG with focal spikes, Foca... ORPHA:140927
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... OMIM:613845
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Ataxia, Bilateral tonic-clonic seizure, ... ORPHA:79243
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:617829
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Tonic seizure, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:611722
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, Rigidity, Bradykinesia, EEG abnorm... OMIM:617836
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, EEG with burst suppre... OMIM:308350
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Vacuolated lymphocytes, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:256730
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus OMIM:610947
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Hypothyroidism, Myoclonus OMIM:619647
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... OMIM:301058
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure OMIM:612621
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go... ORPHA:436182
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Poor gross mo... ORPHA:370968
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... ORPHA:485350
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Seizure, Hypertonia, Myoclonus ORPHA:166063
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Cerebral palsy, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG w... OMIM:617976
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal... ORPHA:208447
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei... OMIM:604317
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus OMIM:619651
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmet... OMIM:618356
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus, Failure to thrive, Anemia OMIM:610090
Peho-Like Syndrome
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
D-Glyceric Aciduria
Neonatal respiratory distress, Bilateral tonic-clonic seizure, Nonketotic hyperglycinemia, Spasti... OMIM:220120
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Short stature, Absent pubertal gro... ORPHA:464282
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia OMIM:306000
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Scoliosis, Status epilepticus OMIM:620200
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... OMIM:301020
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Ataxia, Apnea, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyp... ORPHA:75840
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic... OMIM:619913
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Hyperl... OMIM:300718
Lissencephaly 3
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum... OMIM:611603
Pontocerebellar Hypoplasia, Type 4
Seizure, Respiratory failure, Hypertonia, Myoclonus, Spasticity OMIM:225753
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsin... ORPHA:79263
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... OMIM:616222
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Dysplastic corpus callosum, Seizure, Spasticity OMIM:620317
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... OMIM:603553
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Fail... OMIM:616081
Cystinosis
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal pyramidal sign, Hypo... ORPHA:213
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Vacuolated lymphocytes, Seizure, Abnormality of ext... OMIM:204200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... OMIM:617810
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Alg1-Cdg
Kyphosis, Seizure, Respiratory failure, Hypoalbuminemia, Scoliosis ORPHA:79327
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay,... ORPHA:488635
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Kyphoscoliosis, Babinski sign, Focal tonic seizu... OMIM:617105
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... OMIM:300635
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Multiple pan... ORPHA:79644
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Hepatic calcification, Hyperkinetic movements, Hyperaldosteronism... ORPHA:73224
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Seizure, EEG abnormality, My... OMIM:300673
Pseudohypoparathyroidism, Type Ic
Short stature, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Obesit... OMIM:612462
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... OMIM:615338
Sulfite Oxidase Deficiency, Isolated
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Multi... OMIM:272300
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Multifocal epileptiform... OMIM:616672
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Kyphosis, Spastic tetraplegia, Intrauterine growth retardation, F... OMIM:618237
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Seizure, Hypokalemia, Hyperphosph... OMIM:601198
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Short stature, Hypercalcemia, Obesity, Seizure, Myoclonus, Increased blood urea nitro... ORPHA:251004
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharge... ORPHA:163921
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Bilateral tonic-clonic seizure OMIM:617862
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... OMIM:616834
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Generalized-onset seizure, Failure to thrive in infancy, Respiratory insuff... ORPHA:254875
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... OMIM:618156
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Hyperhidrosis, ... OMIM:614299
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Respiratory insufficienc... OMIM:609981
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Decreased circulating parathyroid hormone... ORPHA:157215
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressib... ORPHA:403
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Bilateral tonic-clonic seizure, Short stature, Short neck, Spastic paraplegia, Dys... OMIM:615031
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, EEG with abnormally slow frequencies, Chorea, Multifocal epileptiform discharges, Seizure... ORPHA:70472
Hsd10 Disease
Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Seizure, Myoclonus, Spas... ORPHA:391417
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, EEG abnormality, Focal impaired awareness seizur... OMIM:613970
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... OMIM:239200
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Respiratory insufficiency, Opisthot... OMIM:605711
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... OMIM:617493
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for... OMIM:601678
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparath... OMIM:264700
Pontocerebellar Hypoplasia Type 1
Ataxia, Congenital laryngeal stridor, Degeneration of anterior horn cells, Seizure, Respiratory f... ORPHA:2254
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... OMIM:618414
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Cdkl5-Deficiency Disorder
Infantile spasms, Focal-onset seizure, Kyphosis, Multifocal epileptiform discharges, Abnormal res... ORPHA:505652
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Hepatomegaly, Ataxia, Tremor, Postnat... ORPHA:90321
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Respiratory failure, Increased total bilirubin ORPHA:890
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Dystonia 23
Torticollis, Myoclonus, Head tremor OMIM:614860
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... OMIM:278000
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Horizontal Gaze Palsy With Progressive Scoliosis
Seizure, Kyphosis, Scoliosis, Short neck ORPHA:2744
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Clonus, Hyponatremia, Short stature, Respiratory insufficienc... ORPHA:534
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity, Hypoinsulinemia OMIM:240900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Re... OMIM:606612
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Short neck, ... ORPHA:98863
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... ORPHA:399
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Seizure, Hypera... ORPHA:37553
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spastic dysarth... ORPHA:313772
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:251274
Multiple Mitochondrial Dysfunctions Syndrome 3
Spastic tetraplegia, Respiratory insufficiency, Seizure, Respiratory failure, Hyperglycinemia, In... OMIM:615330
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Short stature, Tremor, Rigidity, Hyps... ORPHA:442835
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, EEG abnormality, Seizure, Myoclonus, Apraxia OMIM:618193
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, ... ORPHA:168491
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Short stature, ... ORPHA:96180
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Seizure, Abnormality of the vertebral column, Myoclonus, Trun... OMIM:250620
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Obesity, Seizure, EEG abnormality, Scoliosis, Delayed puberty, Scheuerma... OMIM:301900
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Hypo... OMIM:277440
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Elevated circulating creatine kinase concentration, Hypomagnesemia, Focal-onset se... OMIM:619743
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Sialidosis Type 1
Ataxia, Short stature, Tremor, Decreased nerve conduction velocity, Kyphosis, Splenomegaly, Slurr... ORPHA:812
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration... OMIM:618120
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, A... ORPHA:819
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hypo... ORPHA:289157
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Apnea, Rigidity, Respiratory insufficiency, Myoclonic seizure, Seizure, Respiratory failu... OMIM:610127
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Short stature, Splenomegaly, Myoclonus, Decreased body weight... OMIM:231000
Pseudohypoparathyroidism, Type Ia
Short stature, Short neck, Obesity, Pseudohypoparathyroidism, Seizure, Hyperphosphatemia, Elevate... OMIM:103580
D-Glyceric Aciduria
Increased circulating free fatty acid level, Chorea, Nonketotic hyperglycinemia, Seizure, Hypergl... ORPHA:941
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98853
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb spasticity, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosi... OMIM:615290
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Spinal rigidity, Dyspnea, Respiratory failure... OMIM:620326
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic ... ORPHA:42
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Sandhoff Disease
Hepatomegaly, Ataxia, Kyphosis, Splenomegaly, Seizure, Failure to thrive ORPHA:796
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Short stature, Kyphosis, Obesity, Seizure, S... OMIM:616756
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Diabetes mellitus, Small for gestational age, Bilateral tonic-clonic seizure, Elevated hemoglobin... OMIM:619278
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, Grow... OMIM:241530
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Chvostek sign, Hyperphosphat... OMIM:146200
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Respiratory failure OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Respiratory insufficiency, Seizure, Athetosis, Myoclonus, Scoliosis OMIM:618241
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Short stature, Hypsarrhythmia, Myoclonus, Decreased body weight, Failure to thrive OMIM:619060
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hepatocellular carcinoma, Increased hepati... ORPHA:2088
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... OMIM:271900
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Sarcosinemia
Hypersarcosinemia, Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Seizure, EEG abnormality, Lateral ventricle dilatation, Myoclonus, Apraxia, Abnorm... OMIM:221770
Spinal Muscular Atrophy, Type I
Respiratory failure, Tongue fasciculations, Respiratory insufficiency OMIM:253300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619428
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig... ORPHA:204
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykines... OMIM:300423
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenocortical ade... ORPHA:231632
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... ORPHA:240103
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive... ORPHA:36238
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Seizure, EEG abnormality, Hyperuricemia, Myoclonus, Spasticity, Anemia OMIM:246450
Reni Syndrome
Hypertriglyceridemia, Ataxia, Seizure, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Lymp... OMIM:617575
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Weig... ORPHA:248111
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, Ta... OMIM:615838
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Dysplastic corpus callosum, Seizure, Hypocholesterolemia, Spasticity OMIM:618810
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly... OMIM:313420
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypergonadotrop... OMIM:203800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Seizure, Kyphosis, Elevated circulating creatine kinase conc... OMIM:618138
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Bilateral tonic-clonic seizure, Hyperlordosis, Chorea, Restrictive ventilatory defe... ORPHA:369840
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure... ORPHA:132
Bangstad Syndrome
Ataxia, Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Seizure, Increased... ORPHA:1227
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, Babinski sign, Dy... OMIM:618093
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Babinski sign, Nonketotic hyperglycinemia, Spastic diplegia, Spastic dysarthria, Hyperton... ORPHA:401866
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, Gait ataxia, Generali... OMIM:618090
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... OMIM:607765
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone... ORPHA:562
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Dyspnea, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypoca... ORPHA:36913
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Decreased nerve conduction velocity, Diaphragmatic paralysis, Tachypne... OMIM:604320
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Abnormal circulating calcium concentration, Spinal canal stenosis, Elevated circul... OMIM:307800
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptifo... OMIM:617166
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Abnormal form of the vertebral bodies, Hypocalcemia, Scoliosi... ORPHA:93160
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Respiratory insufficiency, Seizure, Hypogonadism, Myoclonus, Diabetes i... ORPHA:97229
Thymic Neuroendocrine Tumor
Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus... ORPHA:97289
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t... OMIM:266510
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Scoliosis, Palatal tremor, Failur... ORPHA:363717
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Tremor, Opisthotonus, Choreoathe... ORPHA:79139
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:613090
Dk1-Cdg
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal-onset seizure, Multifocal ... ORPHA:91131
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Short stature, Babinski sign, Eleva... ORPHA:423479
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Short stature, Hyp... OMIM:241200
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Ataxia, Elevated circulating creatine kinase ... ORPHA:496641
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemi... ORPHA:231580
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98855
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Seizure, Hyperlipidemia, Short stature, Hyperuricemia ORPHA:364
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Hyperhidrosis, Growth delay, Respirator... OMIM:245400
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Incoordi... ORPHA:480864
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Short stature, Hypophosphatemia OMIM:193100
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... OMIM:620211
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Small for gestational age, ... OMIM:127000
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Decreased DLCO, Emphysema, Hypophosphatemia OMIM:618913
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Generalized-onset seizure, Ataxia, Hypergonadotropic hypogonadis... OMIM:212065
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Large for gestational age, Hypophos... OMIM:616026
Familial Isolated Hyperparathyroidism
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... ORPHA:99879
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination... ORPHA:79264
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Hy... ORPHA:411986
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hyperammonemia, Growth delay, Seizure, Respiratory failure, Intrauterine growth ret... ORPHA:1194
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Apnea, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure... OMIM:614498
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe... ORPHA:225154
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Hereditary Fructose Intolerance
Hepatomegaly, Episodic hyperhidrosis, Jaundice, Hypermagnesemia, Growth delay, Seizure, Hyperuric... ORPHA:469
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Babinski sign, Slurred speech, ... ORPHA:93952
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetos... OMIM:606703
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Respiratory distress, Bilateral tonic-clonic seizure, Infantile spasm... ORPHA:544503
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Valinemia
Hypervalinemia, Failure to thrive, Hyperkinetic movements OMIM:277100
Pseudopseudohypoparathyroidism
Short stature, Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulat... ORPHA:79445
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, EEG abnormality, Abnormal pe... ORPHA:457205
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... OMIM:613027
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Growth delay, Failure to thrive, Hypocalcemia, Hypophosphatemia OMIM:600081
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, Bradykinesi... OMIM:607136
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Microtriplication 11Q24.1
Speech apraxia, Short stature, Short neck, Hyperlipidemia, Obesity, Seizure, Hyperkinetic movemen... ORPHA:289522
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Spasticity OMIM:617284
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bilateral tonic-clonic seizure, Apnea, Focal motor seizure, Spasticity, Failure to ... OMIM:618235
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Maternal diabetes, Paralysis, Focal-onset seizure... ORPHA:358
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsar... OMIM:600721
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... OMIM:605259
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Fasciculations, Mi... OMIM:604484
Pseudohypoparathyroidism Type 1B
Calcinosis, Short stature, Decreased response to growth hormone stimulation test, Short neck, Dys... ORPHA:94089
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... OMIM:615238
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Short stature, Infantile spasms, Tonic sei... OMIM:615851
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Chorea, Elevated circulating thyroid-stimulating hormon... ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia, Opisthotonus, Respiratory failure, Intrauterine growth retardation,... OMIM:610678
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Hypertonia, Myoclonus... OMIM:616505
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria,... OMIM:614487
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Spastic te... OMIM:619055
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating ... OMIM:612089
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hyperlordos... ORPHA:26791
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Seizure,... ORPHA:411634
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy... OMIM:603471
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... ORPHA:13
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetos... ORPHA:445038
Chylomicron Retention Disease
Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Growth delay, Steatorrhea, Increased hep... ORPHA:71
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Tibial Muscular Dystrophy
Respiratory failure, Mildly elevated creatine kinase, Clumsiness ORPHA:609
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Clumsiness, Hypochloremia, Hypokalemia, Hyperaldosteroni... ORPHA:89938
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Autosomal Dominant Spastic Paraplegia Type 6
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Babinski sign, Spastic pa... ORPHA:100988
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Thyrocerebrorenal Syndrome
Slurred speech, Seizure, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxia, Thrombocy... ORPHA:3327
Myoclonus, Intractable, Neonatal
Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus OMIM:617235
Severe Canavan Disease
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Decerebrate rigidity, Spasticity ORPHA:314911
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Ataxia, Overweight, Obesity, Hypsarrhythmia, Seizure, EEG abn... OMIM:619229
Orthostatic Hypotension 1
Hypomagnesemia, Seizure, Reduced circulating prolactin concentration, Increased blood urea nitrogen OMIM:223360
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Thrombocytopenia... OMIM:617053
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Hypoalbuminemia, Hepatic fibrosi... ORPHA:14
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... OMIM:618170
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Recurrent ... OMIM:615637
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration,... OMIM:201475
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Leigh Syndrome
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Seizure, Respiratory failure, Spastic... OMIM:256000
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Hyperlordosis, Reduced forced vital capacity,... OMIM:620249
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi... OMIM:620292
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Short stature, Hypophosphatemia OMIM:308990
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Postnatal growth retardation, Intrahepatic cholestasis, Hypophosphate... OMIM:227810
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hyperactive... OMIM:607364
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, EEG abnormality, Status ... ORPHA:529665
Sanjad-Sakati Syndrome
Hypoparathyroidism, Short stature, Postnatal growth retardation, Spinal canal stenosis, Seizure, ... ORPHA:2323
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:264580
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholes... ORPHA:567548
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Hyperinsuli... ORPHA:528
Ataxia-Telangiectasia-Like Disorder
Ataxia, Hypergonadotropic hypogonadism, Short stature, Chorea, Dysmetria, Gait ataxia, Dysdiadoch... ORPHA:251347
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Ataxia-Telangiectasia
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor... OMIM:208900
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Pro... OMIM:277460
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Kyphosis, Obesity, Seizure, Scoliosis ORPHA:276630
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Short stature, Kyphosis, Scoliosis OMIM:300434
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Opsismodysplasia
Rhizomelia, Short neck, Hypoplasia of the odontoid process, Respiratory insufficiency, Hypoplasti... OMIM:258480
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Generalized-onset seizure, Small for gestational age, Elevated circulatin... OMIM:612073
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Neonatal... ORPHA:79237
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, EEG wi... ORPHA:457351
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Apnea, Spastic hemiparesis, Leukocytosis, Jaundice, Tac... ORPHA:20
Hypophosphatemic Bone Disease
Short stature, Hypophosphatemia OMIM:146350
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... ORPHA:178320
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Copper accumulation in liver, Myoclonic seizure, Growth delay, EEG abnormality,... OMIM:614946
Whipple Disease
Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Abnormal... ORPHA:3452
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Epileptic spasm, Ataxia, Elevated circulating creatine kinase concentratio... OMIM:617193
Griscelli Syndrome Type 1
Seizure, Hyperlipidemia, Hypertonia, Ataxia ORPHA:79476
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, Scoliosis, Male hypogonadism, He... OMIM:615381
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Elevated circulating creatine kinase concentration, Respiratory failure, ... OMIM:603689
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Bilateral... OMIM:610505
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Fasciculations OMIM:613435
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, Partial agenesis of the corpus callosum, EEG wit... ORPHA:101030
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Short stature, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:79240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatic steatosis, Hepatomegaly, Generalized-onset seizure, Hypertriglyceridemi... OMIM:619418
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... OMIM:203330
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... ORPHA:90363
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cach... ORPHA:206436
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... OMIM:608836
Blue Diaper Syndrome
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... ORPHA:94086
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Malignant Hyperthermia, Susceptibility To, 3
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Bilateral tonic-clonic seizure, Kyphoscoliosis, Rigidity, Abnormal pyr... ORPHA:199354
Leprechaunism
Hepatomegaly, Postnatal growth retardation, Hyperinsulinemia, Central hypothyroidism, Hypokalemia... ORPHA:508
Microcephaly, Amish Type
Hepatomegaly, Partial agenesis of the corpus callosum, Myoclonus, Failure to thrive, Limb hypertonia OMIM:607196
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... ORPHA:488613
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Short stature, Hypophosphatemia OMIM:613388
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Dyspnea, Ta... ORPHA:79126
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Hypoglycinemia, Bilateral tonic-clonic seizure, Short stature, Megaloblastic ane... ORPHA:79351
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlord... OMIM:613327
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Seizure, Lateral ventricle dilatation, Hypertonia, Severe postnatal gr... ORPHA:3078
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Convulsive status epilepticus, EEG abnormality OMIM:618760
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Epi... ORPHA:53583
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Respiratory insuffi... ORPHA:746
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Precocious puberty, Hypsarrhythmia, Myoclonic se... OMIM:619877
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Ataxia, Bilateral tonic-clonic... OMIM:618426
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Short stature, Kyphosis, Babinski sign, Seizure, Status epileptic... ORPHA:364028
Colchicine Poisoning
Hyponatremia, Respiratory distress, Leukocytosis, Abnormal blood ion concentration, Cardiorespira... ORPHA:31824
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia OMIM:618637
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hepatomegaly, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with ... ORPHA:163681
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Increased serum beta-hexosaminidase, Tremor, Precoc... ORPHA:845
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasti... OMIM:618201
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Respiratory insufficiency, Se... OMIM:618186
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrop... OMIM:169400
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Short stature, Autoimmune thromboc... ORPHA:77293
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Short stat... ORPHA:457240
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Increased hepatic glycogen... ORPHA:369
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Generalized-onset seizure, Short stature, Clonus, Extramedullary hema... OMIM:259720
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Leigh Syndrome
Chorea, Choreoathetosis, Neutropenia, Agenesis of corpus callosum, Ataxia, Hypsarrhythmia, Seizur... ORPHA:506
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Hypergonadotropic hypog... OMIM:607426
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hyperhomocyst... OMIM:236270
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concen... OMIM:618733
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Hypouricemia, Bilateral tonic-clonic seizure, Limb hypertonia, Hyperto... OMIM:615501
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Respiratory distress, Epileptic spasm, Hypoventilation, Bilateral tonic-clonic se... ORPHA:314655
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, Pituitary hypothyro... OMIM:619983
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Va... ORPHA:228346
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Seizure, Spasticity, Ataxia, Myoclonus OMIM:620094
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epileptiform disc... OMIM:619827
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Abnorm... ORPHA:139396
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Hypsarrhythmia, Seizure, Myoclonus, Scoliosis, Agenesis... OMIM:617669
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Scoliosis, Short neck OMIM:168400
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:203740
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Myoclonic seizure, Respiratory failure, Hypoalbuminemia, Macrovesicula... OMIM:618329
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Short stature, Elevated circulating... OMIM:101800
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Nipah Virus Disease
Respiratory distress, Tremor, Seizure, Myoclonus, Cough ORPHA:99825
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Seizure, Hypokalemia, Respiratory failure, Interstitial pn... ORPHA:330021
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Episodic hyperhidrosis, Elevated circulating creatinine concentration, Growth del... OMIM:223900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Bilateral tonic-clonic seizure, Hypercalcemia, Precocio... ORPHA:369837
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Seizure, Myoclonus, Thrombocytopenia, Goiter OMIM:274240
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... ORPHA:435660
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Apnea, Focal-on... ORPHA:395
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Peroxisome Biogenesis Disorder 4A (Zellweger)
Seizure, Respiratory failure, Increased circulating very long-chain fatty acid concentration, Hep... OMIM:614862
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating cre... OMIM:274150
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Microcytic anemia, Focal-onset seizure, Multifocal epileptiform discharges, Tet... OMIM:618972
Flynn-Aird Syndrome
Ataxia, Cachexia, Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Seiz... ORPHA:2047
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Recurrent pneumonia, Seizure, Hypoalb... ORPHA:79324
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Hypsarrhythmia, S... ORPHA:500144
Muscular Dystrophy, Duchenne Type
Hypoventilation, Elevated circulating creatine kinase concentration, Hyperlordosis, Respiratory i... OMIM:310200
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Seizure, Hyp... ORPHA:79477
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Kyphosis, Seizure, EEG abnormality, Scoliosis ORPHA:1858
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Short stature, Kyphosis, Tongue fasciculations, Failure to thrive OMIM:620007
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Growth delay, Seizure, ... OMIM:615716
Subaortic Stenosis-Short Stature Syndrome
Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Respiratory insufficienc... ORPHA:3191
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Severe short stature, Hypercalcemia, Hypophosphatemia OMIM:156400
Snakebite Envenomation
Hyponatremia, Epistaxis, Paralysis, Pseudobulbar paralysis, Respiratory failure, Respiratory para... ORPHA:449285
Narp Syndrome
Ataxia, Short stature, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms ORPHA:644
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hype... OMIM:615980
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Restrictive ventilatory defect, Abnormal cir... OMIM:618484
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Hypogonadotropic hypogonadism, Short stature, Kyphosis, Abnormal pyramidal sign, Dysmetri... ORPHA:48431
Intellectual Developmental Disorder, X-Linked 30
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Masa Syndrome
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Ag... OMIM:303350
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, EEG... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... OMIM:617854
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Hyperlordosis, Focal-onset seizure, Intercostal muscle weakness, Generalized non... ORPHA:258
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hyperventilation, Hypsarrhythmi... OMIM:300672
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Optic Atrophy 11
Ataxia, Short stature, Splenomegaly, Gait apraxia, EEG with focal sharp waves, Dysmetria, Seizure... OMIM:617302
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Apnea, Hypertonia, Myoclonus, Respi... OMIM:614618
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ... ORPHA:444490
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Short stature ORPHA:329249
Fanconi Renotubular Syndrome 1
Hypokalemia, Short stature, Hypophosphatemia OMIM:134600
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic seizure, Increased thet... ORPHA:98784
Glycogen Storage Disease Iii
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hyperlipidemia, ... OMIM:232400
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Sialidosis Type 2
Hepatomegaly, Short stature, Ataxia, Tremor, Kyphosis, Splenomegaly, Dyspnea, Seizure ORPHA:87876
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:602522
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Infantile spasms, Short stature, Babinski sign, Myoclonic seizure, Opisthotonus, ... OMIM:618076
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Seizure, Intrauterine growth retardation, Hypoplastic spleen, Agenesis of c... ORPHA:89844
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor, Kyphosis, Scoliosis, Abnormal nerve conduction velocity ORPHA:101075
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Involuntary movements, Decreased response to growth h... ORPHA:79443
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Precocious puberty, EEG with burst suppression, Hypsarrhythmia, Seizure,... ORPHA:1934
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... OMIM:615947
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure, Hyposerinemia ORPHA:79350
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Seizure, Truncal obesity, Scoliosis, Spasticity ORPHA:2429
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurre... OMIM:256550
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
Gracile Bone Dysplasia
Short stature, Asplenia, Seizure, Hypocalcemia, Hypoplastic spleen, Failure to thrive OMIM:602361
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Short stature, Splen... OMIM:219800
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Dyspnea, Increased mean corpus... ORPHA:90041
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Apnea, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure,... OMIM:612949
Lafora Disease
Giant somatosensory evoked potentials, Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-cl... ORPHA:501
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia ORPHA:324588
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Seizure, Hyperlipidemia, Failure to thrive, Short stature ORPHA:2089
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concen... OMIM:600092
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Micronodular cirrhosis, Obesity, Abnor... ORPHA:98907
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, Focal... OMIM:617435
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Anhidrosis, Hepatomegaly, Involuntary movements, Elevated circulating alpha... OMIM:615273
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Short stature, Hyperg... OMIM:307030
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira... OMIM:254090
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, EEG abnormality, Hyperkinetic movements, Scoliosi... OMIM:618218
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos... ORPHA:404454
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity OMIM:618323
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Lumbar hyperlordosis, Short stature, Focal hemiclonic seizure, Seizure, ... ORPHA:1830
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure, EEG abnormality, Abnormality of ... ORPHA:500180
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Tremor, Polyminimyoclonus, Stridor, Fasciculations, Scoliosis, Vocal cord paresis OMIM:619574
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema, Hepatic steatosis, Short stature, Por... OMIM:613658
Marinesco-Sjogren Syndrome
Ataxia, Elevated circulating creatine kinase concentration, Hypergonadotropic hypogonadism, Short... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis OMIM:617087
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Short stature, Delayed pu... ORPHA:79259
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyram... ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Apnea, Central hypoventilation, Nephrogenic diabetes insipidus, Seizur... OMIM:620167
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Hyperphenylalaninemia, Limb h... OMIM:233910
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo... OMIM:619911
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Rhizomelia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoatheto... OMIM:616271
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Short stature, Hypophosphatemia OMIM:300554
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Fructose Intolerance, Hereditary
Hepatomegaly, Jaundice, Bicarbonaturia, Seizure, Hyperuricemia, Hyperbilirubinemia, Hypophosphate... OMIM:229600
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Bilateral tonic-clonic seizure, Elevated circulati... OMIM:620300
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Hyperinsulinemia, Elevated circulating creatinine concentration, Rhinitis, Increased blo... ORPHA:230
Oncogenic Osteomalacia
Abnormal vertebral morphology, Hypocalcemia, Hypophosphatemia ORPHA:352540
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Apnea, Respiratory failure OMIM:616277
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Central hypoventilation, Apnea, Dysmetria, Seizure, Respiratory failure OMIM:618233
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hype... ORPHA:275761
Hall-Riggs Syndrome
Kyphosis, Seizure, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth r... OMIM:234250
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Short stature, Stridor, Respiratory failure, Sco... OMIM:606071
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Sudden episodic apnea, Kyp... ORPHA:466722
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega... ORPHA:309155
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Thoracolumbar kyphosis, Focal-on... OMIM:619777
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hemiparesis, Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:540000
Rett Syndrome
Short stature, Apnea, Cachexia, Intermittent hyperventilation, Kyphosis, Gait apraxia, Gait ataxi... OMIM:312750
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Anterior p... OMIM:615926
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Scoliosis ORPHA:101078
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Diabetes melli... ORPHA:412
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Short stature, Abnormal sacroiliac joint morphology, Spinal canal stenosi... ORPHA:289176
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis OMIM:600740
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly, Lymph... OMIM:617591
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Hyperkalemia, Increased c... OMIM:614736
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, EEG with abnormally slow frequencies, Tremor, Obesity, Seizure, EEG abnormality, Myoclonu... ORPHA:98794
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Growth delay, Hypokalemia, H... ORPHA:411629
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Short stature, Infantile spasms, Spastic tetraparesis, Seizure, Myoclo... OMIM:614261
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Angelman Syndrome
Ataxia, Precocious puberty in females, Infantile spasms, Tremor, Obesity, Seizure, EEG abnormalit... ORPHA:72
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyph... OMIM:616482
Melas
Hypoparathyroidism, Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Hypo... ORPHA:550
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Short stature, Kyphosis, Seizure, Hypertonia, Scoliosi... ORPHA:352490
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Tremor, Kyphosis, J... OMIM:615512
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... OMIM:618325
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Seizure, Myoclonus, Respiratory insufficiency OMIM:616158
Juvenile Sialidosis Type 2
Lower limb spasticity, Hepatomegaly, Ataxia, Dysmetria, Abnormal form of the vertebral bodies, He... ORPHA:93399
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypo... OMIM:254900
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Tremor, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Chronic r... ORPHA:667
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Lateral... OMIM:618291
O'Donnell-Luria-Rodan Syndrome
Seizure, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Sandestig-Stefanova Syndrome
Small for gestational age, Short neck, EEG abnormality, Respiratory failure, Intrauterine growth ... OMIM:618804
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Mediastinal lymphadenopathy, Nonproductive... ORPHA:2302
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Spastic tetraplegia, Respiratory insufficiency, Growth delay, Seizure, Myoclonus OMIM:614462
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Decreased circulating... ORPHA:157846
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Nemaline Myopathy 8
Respiratory failure OMIM:615348
Ck Syndrome
Hyperlordosis, Kyphosis, Seizure, Scoliosis, Slender build OMIM:300831
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Short s... OMIM:615356
Peho Syndrome
Seizure, Myoclonus, Hypsarrhythmia OMIM:260565
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Elevated circulating creatine kinase concentration,... OMIM:612953
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Small for gestational age, Hypothyroidism, Hyperlipidemia, Growth ... OMIM:256300
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... ORPHA:98913
Werner Syndrome
Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, H... OMIM:277700
Lissencephaly Due To Tuba1A Mutation
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... ORPHA:171680
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Sjögren-Larsson Syndrome
Short stature, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Scoliosis, Spasticity ORPHA:816
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... OMIM:614409
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... ORPHA:98795
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Rigidity, Opisthotonus, Hy... OMIM:184850
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... ORPHA:94093
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Hyperekplexia 1
Exaggerated startle response, Apnea, Seizure, Hypertonia, Myoclonus, Aspiration, Frequent falls, ... OMIM:149400
Mucolipidosis Iii Gamma
Short stature, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Reduced forc... OMIM:607155
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine... OMIM:618877
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Failure to thrive OMIM:239000
Nephronophthisis 2
Elevated circulating creatinine concentration, Respiratory failure, Hyperkalemia, Respiratory ins... OMIM:602088
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Seizure, Transi... OMIM:255120
Megalocornea-Intellectual Disability Syndrome
Ataxia, Short stature, Kyphosis, Seizure, EEG abnormality, Scoliosis, Hypercholesterolemia, Hypot... ORPHA:2479
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Portal ... ORPHA:79124
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Small for gestational age, Short stature, Decreased body weight OMIM:618392
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Apnea, Splenomegaly, Babinski sign, Respira... OMIM:252010
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Aspiration pneumonia... ORPHA:53351
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Kyphosis, Respiratory insufficienc... ORPHA:702
Biotinidase Deficiency
Respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Apnea, Focal moto... ORPHA:79241
Developmental And Epileptic Encephalopathy 101
Seizure, Apnea, Myoclonus, Opisthotonus OMIM:619814
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, P... OMIM:300912
Kleefstra Syndrome 2
Growth delay, Seizure, Kyphosis, Scoliosis OMIM:617768
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Ataxia, Bilateral tonic-clonic seizure, Seizure, Spasticity, Failure to ... ORPHA:481152
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Anemia, Hyperphosphatemia, Hypocalcemi... ORPHA:93325
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Seizure, Respiratory failure, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morph... ORPHA:143
Dent Disease 1
Short stature, Hypophosphatemia OMIM:300009
Farber Disease
Respiratory distress, Short stature, Intrahepatic cholestasis with episodic jaundice, Infantile s... ORPHA:333
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Apnea, Dyspnea, Chorea, L... ORPHA:255210
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Elevated circulating C-reactive protein concentration, Elevated... ORPHA:49041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Babinski sign, Generalized non... OMIM:615398
Alternating Hemiplegia Of Childhood
Respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Apnea, Tremor, Rigidity, Chorea, Ep... ORPHA:2131
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Myoclonus OMIM:600795
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundi... OMIM:607625
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Short neck, Growth del... ORPHA:247262
Jaberi-Elahi Syndrome
Appendicular spasticity, Bilateral tonic-clonic seizure, Tremor, Kyphosis, Dysmetria, Gait ataxia... OMIM:617988
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pneumonia, Pure red ce... ORPHA:436159
Neutral Lipid Storage Myopathy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Chronic pancreatitis, Obesi... ORPHA:98908
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Postural tremor, Short stature, Splenomegaly, Micronodular cirrhosis, Babin... OMIM:301072
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Distal 16P11.2 Microdeletion Syndrome
Seizure, Kyphosis, Hyperuricemia, Obesity ORPHA:261222
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Short stature, Elevated circulating alpha-fetoprotein concen... ORPHA:420741
D-Bifunctional Protein Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Splenomegaly, ... OMIM:261515
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Myoclonic seizure, Respiratory failure, Fasciculations, Int... OMIM:620327
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Palatal tremor ORPHA:363722
Apparent Mineralocorticoid Excess
Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard... ORPHA:320
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Xerostomia, Abnormal res... ORPHA:803
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Myoclonus, Abnormal pattern of respiration ORPHA:168593
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Myoclonus, Type I diabetes mellitus, Failure to thrive OMIM:560000
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Seizure, Kyphosis, Ataxia, Scoliosis ORPHA:85317
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Sei... OMIM:220110
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Short neck, Precocious puberty, Kyphosis, Hyperlipidemia, Obesity, Seizure, Sc... ORPHA:254346
Crisponi Syndrome
Kyphosis, Respiratory insufficiency, Hypohidrosis, Hyperhidrosis, Seizure, Hypertonia, Scoliosis ORPHA:1545
Pontocerebellar Hypoplasia, Type 7
Ataxia, Apnea, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Tongue fas... OMIM:614969
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... ORPHA:308552
Thoracic Dysplasia-Hydrocephalus Syndrome
Seizure, Respiratory failure, Ataxia, Short stature ORPHA:1861
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Growth delay, Se... OMIM:252160
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Babinski sign, Limb tremor, Cardiorespiratory a... OMIM:608643
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Mepan Syndrome
Ataxia, Chorea, Myoclonus, Spasticity, Failure to thrive ORPHA:508093
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Infantile spasms, Hypsarrhythmia OMIM:618374
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges ORPHA:453510
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, Tachypnea... ORPHA:60025
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Bradypnea, Respiratory failure... OMIM:617186
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Seizure, Respiratory failure, Tongue fasciculations, Myoclonus, Hepatic steatosis OMIM:614922
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Chorea, Athetosis, Sc... OMIM:619435
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Short stature, Ovoid vertebral bodies, Hypocholesterolemia, Failur... OMIM:244450
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ventilat... ORPHA:99931
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, My... OMIM:619580
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Absence seizure with eyelid myoclonia, Ataxia, Megaloblastic anemia, ... OMIM:613839
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Ataxia, Eosinophilia, Allergic rhinitis, Asthma, Bronchiectasis, M... OMIM:615816
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Short stature, Short neck, Babinski sign, Generalized non-motor (... OMIM:615802
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Seizure, Respiratory failure, Failure to thrive OMIM:618252
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Seizure, Progressive gait ataxia, Res... OMIM:607459
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth delay, Hypokalemia, Decreased... ORPHA:3337
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Kyphosis, Hyperhidrosis, EEG abnormality, Vertebral segmentation defect, Hy... ORPHA:2617
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Epistaxis... OMIM:185070
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Kyphoscoliosis, Postnatal growth retardati... OMIM:614222
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... OMIM:610042
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... ORPHA:443811
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Intrahepa... OMIM:617093
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Abnormal pattern of respiration, Cortical myoclonus ORPHA:428
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Short stature, Microcytic anemia, Bronchiectasis, Hepato... ORPHA:168569
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Kyphosis, Scoliosis, Abnormal nerve conduction velocity ORPHA:99014
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Anhidrosis, Ataxia, Bilateral tonic-clonic seizure, Small for gestational ... OMIM:617799
Abeta Amyloidosis, Iowa Type
Myoclonus ORPHA:324708
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemi... OMIM:619573
Hereditary Renal Hypouricemia
Back pain, Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:154230
Unilateral Polymicrogyria
Apnea, Involuntary movements, Infantile spasms, Epistaxis, Focal-onset seizure, Spastic tetrapleg... ORPHA:268943
Spinocerebellar Ataxia Type 13
Torticollis, Short stature, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykines... ORPHA:98768
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Bilateral tonic-clonic seizure, Apnea, Splenomegaly, EEG abnormality, Neutropenia, ... OMIM:617050
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Primary hyperparathyroidism, Abnormal parathyroid morph... ORPHA:99880
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:157
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Infantile spasms, Kyphosis, Seizure, Scoliosis OMIM:619797
Baralle-Macken Syndrome
Focal-onset seizure, Spasticity, Kyphosis, Obesity OMIM:619255
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Truncal obesity, Increas... OMIM:219080
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Methanol Poisoning
Type I diabetes mellitus, Seizure, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Myoclonic sei... OMIM:268800
Fatal Familial Insomnia
Apnea, Ataxia, Hyperhidrosis, Weight loss, Myoclonus OMIM:600072
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Generalized-onset seizure, Abnormal circulating aldosterone, Reduced blood urea nit... OMIM:300539
Raine Syndrome
Short neck, Short stature, Hypophosphatemia OMIM:259775
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Growth delay, Seizure, Scoliosis, Intrauterine growth retardation, ... ORPHA:238750
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Short stature, Kyphosis, Hypertonia, Scoliosis, Intrau... OMIM:615834
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Short stature, Conjugated hyperbilirubinemia, Splenomegal... OMIM:608885
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... ORPHA:97282
Adenylosuccinase Deficiency
Opisthotonus, Gait ataxia, Seizure, Growth delay, Myoclonus, Hemiplegia, Spasticity OMIM:103050
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Short stature, Spastic t... OMIM:620070
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... ORPHA:542323
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Short neck, Tremor, Hypothyroidism, Chorea, Precocious puberty... ORPHA:58
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Kyphosis, Failure to thrive, Clonus ORPHA:319199
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Short neck, Generalized non-motor ... OMIM:620224
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Bilateral tonic-clonic seizure, Elevated circulating C-reac... ORPHA:319213
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive, Mildly elevated creatine k... ORPHA:536516
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Short stature, Apnea, Short neck, Hyperlordosis, Kyphosis, Seizure... OMIM:314580
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Tremor, Seizure, Truncal obe... OMIM:300957
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growt... OMIM:618165
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... ORPHA:97349
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D... ORPHA:280365
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Sacral dimple, Short stature, Precocious puberty, Splenomegaly, Partial agenesis of... OMIM:270400
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Apnea, Hyperhidrosis, Choreoathetosis... ORPHA:17
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Focal-onset seizure, Kyphosis, Spastic tetraplegia, S... OMIM:618476
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... ORPHA:2759
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Niemann-Pick Disease Type C
Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progr... ORPHA:646
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Obesi... ORPHA:563
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Cog8-Cdg
Seizure, Failure to thrive, Ataxia, Myoclonus ORPHA:95428
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Bilateral tonic-clonic seizure OMIM:619356
Hemifacial Atrophy, Progressive
Seizure, Ataxia, Kyphosis OMIM:141300
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Paraplegia ORPHA:71211
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Tremor, Kyphosis, Gait ataxia, Seizure, Abdominal obesity, Hypogonadism, Delayed p... OMIM:300354
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Dystonia 34, Myoclonic
Torticollis, Myoclonus, Hand tremor, Head tremor OMIM:619724
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Bilateral tonic-clonic seizure, Abnormal odontoid process morphology, Kyphosco... ORPHA:2976
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Carnitine Palmitoyl Transferase 1A Deficiency
Hemiplegia/hemiparesis, Seizure, Transient hyperlipidemia, Hepatomegaly ORPHA:156
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Hypsarrhythmia,... OMIM:618321
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Myofibrillar Myopathy 10
Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kin... ORPHA:228308
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hepatomegaly, Large for gestational age, Short neck, Microvesicular hepati... OMIM:300868
Cocaine Intoxication
Respiratory distress, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concen... ORPHA:90068
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Cough, Thrombocytopenia, Leukocytosis, Dys... ORPHA:340
Calciphylaxis
Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Gm1-Gangliosidosis, Type Iii
Ataxia, Short stature, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lu... OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Seizure, Kyphosis, Ataxia, Scoliosis OMIM:300861
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Kinsship Syndrome
Sacral dimple, Bilateral tonic-clonic seizure, Short stature, Spastic tetraparesis, Short neck, F... OMIM:619297
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Eleva... OMIM:256040
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Mesenteric cyst, Bilateral tonic-clonic seizure, Scoliosis OMIM:618316
1Q44 Microdeletion Syndrome
Short stature, Bilateral tonic-clonic seizure, Growth delay, Scoliosis, Agenesis of corpus callosum ORPHA:238769
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... OMIM:607822
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Abnormal curvature of the ver... ORPHA:93360
Gm1 Gangliosidosis
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Short stature, Hyperlordosis, Trem... ORPHA:354
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti... OMIM:610921
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:617994
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Spastic hemipare... ORPHA:268940
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoathetosis, Seizu... ORPHA:391428
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Seizure, Platyspondyly... ORPHA:2655
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Ataxia, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hype... ORPHA:466650
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity... ORPHA:3085
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Galloway-Mowat Syndrome 10
Myoclonus, Congenital hypothyroidism OMIM:619609
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Kyphosis, Obesity, Seizure, Hypogonadism, Scoliosis OMIM:615547
Dubowitz Syndrome
Sacral dimple, Short stature, Aplastic anemia, Postnatal growth retardation, Acute lymphoblastic ... OMIM:223370
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Growth delay, Seizure, Myo... OMIM:252150
Scorpion Envenomation
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Acute pancreatitis, Trem... ORPHA:466677
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:151660
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, Bilateral tonic-clonic seizure, El... ORPHA:3044
Serotonin Syndrome
Clonus, Tremor, Rigidity, Tachypnea, Hyperhidrosis, Seizure, Hypertonia, Myoclonus ORPHA:43116
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Hepatomegaly, Hypoventilation, Ataxia, Tracheomalacia, Paralysis, M... OMIM:203700
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Short stature, Titubation, Respiratory failure, Failure to thrive ORPHA:280210
Hypomelanosis Of Ito
Seizure, Kyphosis, Scoliosis OMIM:300337
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r... ORPHA:171436
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Hyperkalemia, Slurred speech, Episodic respiratory distress, Seizure, Hypocalc... ORPHA:31826
X-Linked Hypophosphatemia
Sacroiliac joint synovitis, Disproportionate short stature, Growth delay, Hypophosphatemia, Verte... ORPHA:89936
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Seizure, Failure to thrive OMIM:608776
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Short stature, Short neck, Postnatal g... OMIM:257300
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal motor nerve conduction velocity, Par... ORPHA:2912
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Abnormal respiratory system physiology, Severe postnatal growth retardation, Respirato... ORPHA:98905
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor OMIM:618381
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... OMIM:265120
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Decreased amplitude of se... ORPHA:2388
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, E... OMIM:618143
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Portal hypertension, Decreased nerve co... OMIM:609136
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Reduced a... OMIM:301040
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Short stature, Generalized non-motor (absence) seizure, Myoclonic... OMIM:614207
9P13 Microdeletion Syndrome
Short stature, Precocious puberty, Hand tremor, Myoclonus, Scoliosis ORPHA:324313
Meningioma
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... ORPHA:2495
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Ataxia, Kyphosis, Obesity, Scoliosis OMIM:618124
Winchester Syndrome
Kyphosis OMIM:277950
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Limb tremor, Myoclonus, Head tremor, Hyperventilation ORPHA:420492
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ... ORPHA:244
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Hyperhidrosis, Seizure, EEG abnor... ORPHA:85293
Gaucher Disease
Hepatomegaly, Pancytopenia, Ataxia, Bilateral tonic-clonic seizure, Elevated circulating C-reacti... ORPHA:355
Congenital Sialidosis Type 2
Hepatomegaly, Ataxia, Dysmetria, Hepatosplenomegaly, Seizure, Myoclonus, Spasticity ORPHA:93400
Scedosporiosis
Bronchial breath sound, Sinusitis, Diabetes mellitus, Pneumonia, Abnormal respiratory system phys... ORPHA:449280
3-Methylglutaconic Aciduria, Type Viii
Apnea, Clonus, Tremor, Jaundice, Growth delay, Seizure, Hypopnea, Hypertonia, Respiratory failure... OMIM:617248
Fucosidosis
Hepatomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetraple... ORPHA:349
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Scoliosis, Increase... OMIM:300280
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... OMIM:135100
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Kyphosis, Dyspn... OMIM:211530
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hormone level, Ab... ORPHA:90796
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Diabetes mellitus, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, Kyphosis ORPHA:536532
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Pediatric-Onset Graves Disease
Hepatomegaly, Tremor, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increase... ORPHA:525731
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Srd5A3-Cdg
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnor... ORPHA:324737
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Short stature, EEG with abnormally slow frequencies, Kyphosis, Recurrent pneumon... OMIM:618493
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Restrictive ventilatory defect, Hyperkinetic movements, Scoliosis, Truncal ataxia ORPHA:369847
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, H... OMIM:230500
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... OMIM:207800
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Chromosome 3Q13.31 Deletion Syndrome
Seizure, Agenesis of corpus callosum, Kyphosis OMIM:615433
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
3P25.3 Microdeletion Syndrome
Sacral dimple, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, S... ORPHA:435638
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Spastic tetraplegia, Respiratory insufficiency, Seizure, Intrauterine growth retardatio... OMIM:619909
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Clark-Baraitser syndrome
Seizure, Kyphosis, Obesity, Scoliosis OMIM:300602
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Generalized non-motor (absence) seizure, G... OMIM:617798
Neuroblastoma, Susceptibility To, 1
Ataxia, Weight loss, Myoclonus, Failure to thrive, Anemia OMIM:256700
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Hypoplastic vertebral bodies, Hype... ORPHA:3455
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity ORPHA:2752
Thanatophoric Dysplasia Type 2
Short stature, Kyphosis, Respiratory insufficiency, Seizure, Platyspondyly ORPHA:93274
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Epileptic spasm, Exaggerated startle response, Short stature, Involuntary moveme... ORPHA:438213
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoli... OMIM:609813
Lathosterolosis
Abnormal thoracic spine morphology, Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, ... ORPHA:46059
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis OMIM:610644
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Cerebrotendinous Xanthomatosis
Resting tremor, Abnormality of the vertebral spinous processes, Ataxia, Parkinsonism, Abnormal au... ORPHA:909
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia ORPHA:356
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... ORPHA:447
Listeriosis
Back pain, Respiratory distress, Liver abscess, Ataxia, Pneumonia, Tremor, Jaundice, Peritonitis,... ORPHA:533
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, Peritonitis, Non... ORPHA:31204
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:178148
Arthrogryposis, Distal, Type 5
Short stature, Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory ... OMIM:108145
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Clonus, Spontaneous pneumothorax, Babinski sign,... OMIM:606721
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Seizure, Myoclonus, Aspiration pneumonia OMIM:619167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:616538
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypogonadism ORPHA:1875
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Fountain Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Seizure, EEG abnormality, Scolios... ORPHA:3219
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Apnea, Rigidity, Kyphosis, Babinski sign... OMIM:617527
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... OMIM:202010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Malignant Atrophic Papulosis
Peritonitis, Weight loss, Seizure, Respiratory failure, Pleural effusion ORPHA:679
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocytopenia ORPHA:83313
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Rigidity, Kyphosis, Respiratory insufficiency, Hypsarrhythmi... ORPHA:521426
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Mcdonough Syndrome
Kyphosis, Short stature, Scoliosis, Cachexia ORPHA:2471
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... ORPHA:97280
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... OMIM:269700
Weaver Syndrome
Bilateral tonic-clonic seizure, Kyphosis, Slurred speech, Generalized non-motor (absence) seizure... OMIM:277590
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic paraparesis, Progressive... ORPHA:329308
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... ORPHA:125
X-Linked Intellectual Disability, Snyder Type
Short stature, Involuntary movements, Kyphoscoliosis, Kyphosis, Focal motor seizure, EEG abnormal... ORPHA:3063
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... ORPHA:171695
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Severe short stature, Short stature, Short neck, Kyphosis, Splenomegaly, Asthma, Re... OMIM:309900
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Chromosome Xp11.3 Deletion Syndrome
Asthma, Bilateral tonic-clonic seizure, Short stature OMIM:300578
Amish Lethal Microcephaly
Hepatomegaly, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Vacterl Association With Hydrocephalus
Respiratory failure, Abnormality of the vertebral column, Abnormal vertebral morphology, Respirat... OMIM:276950
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood ion concentration, Growth ... ORPHA:79404
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... OMIM:608594
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Scoliosis, Frequent fal... OMIM:620351
Alagille Syndrome 1
Hypertriglyceridemia, Hepatocellular carcinoma, Hemivertebrae, Cholestasis, Reduced number of int... OMIM:118450
Myopathy, Centronuclear, 2
Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Intrauterin... OMIM:255200
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Sialuria
Neuropathic spinal arthropathy, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Seizu... ORPHA:3166
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pancytopenia, Short stature, Decreased response to growth ... ORPHA:1855
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Hype... ORPHA:363618
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements, Interictal epilepti... OMIM:300243
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Alpha-Mannosidosis
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Type II diabetes mellitus, Scoliosis ORPHA:61
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Generalized-onset seizure, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlor... OMIM:618443
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Abnormal intervertebral disk morphology, Abnormally ossified vertebrae, Severe s... ORPHA:2636
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tremor, Kyphosis, Gait ataxia, Seizure, Scoliosis, Failure to thrive ORPHA:476126
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, In... OMIM:300942
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:94065
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Seizure, Athetosis, EEG abnormality, Scoliosis, Apraxia, Aspiration, Spasticity OMIM:613454
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Seizure, Abnormal sensory nerve conduction vel... ORPHA:88628
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar... ORPHA:293987
Ruvalcaba Syndrome
Kyphosis, Seizure, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Intrauter... ORPHA:3121
Goodpasture Syndrome
Crackles, Cough, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Increase... OMIM:233450
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral tonic-clonic seizure, Neonatal insulin-dependent diabetes mellitus, Weight loss... ORPHA:99885
Myhre Syndrome
Vertebral fusion, Small for gestational age, Ataxia, Short stature, Short neck, Obesity, Respirat... OMIM:139210
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Kyphosis, EEG ab... OMIM:619005
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Growth delay, Hypertonia, Hyperkinetic moveme... OMIM:619738
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Kyphosis, Abnormal form of the ver... ORPHA:2635
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... ORPHA:79138
Diastrophic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoliosis, Intrauteri... ORPHA:628
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio... OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Seizure, Hyperkinetic movements, Spasticity, Failure to thrive OMIM:616420
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Glass Syndrome
Bilateral tonic-clonic seizure, Apnea, Short stature, Seizure, Febrile seizure (within the age ra... OMIM:612313
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Growth delay, Seizure, Scoliosis, Agenesis of corpus callosum ORPHA:261144
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Bili... ORPHA:567983
Mend Syndrome
Sacral dimple, Short stature, Abnormal auditory evoked potentials, Kyphosis, Elevated 8-dehydroch... ORPHA:401973
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypokalemia, Abdominal ob... OMIM:219090
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Pneumonia, Short neck, Increased ... OMIM:264090
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Failure to thri... ORPHA:268261
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, EEG with... ORPHA:217253
Marden-Walker Syndrome
Short neck, Postnatal growth retardation, Kyphosis, Seizure, Scoliosis, Intrauterine growth retar... OMIM:248700
Desbuquois Dysplasia 1
Neonatal respiratory distress, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity... OMIM:251450
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Increased intervertebral space, Opisthotonus, T lymphocytopenia, Hyper... ORPHA:508533
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Ogden Syndrome
Generalized-onset seizure, Apnea, Maternal diabetes, Short neck, Microvesicular hepatic steatosis... OMIM:300855
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Hypercapnia, Intercostal muscle weakness, Respiratory insufficienc... ORPHA:2020
Harrod Syndrome
Kyphosis, Seizure, Scoliosis, Intrauterine growth retardation, Failure to thrive ORPHA:2115
Familial Multiple Lipomatosis
Seizure, Hyperlipidemia ORPHA:199276
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure, Small for gestational age, Proportionate short stature, Hyperlord... OMIM:234100
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Diabetes insipidus, Gonadotropin deficiency, Growth delay, Hypern... OMIM:615465
Joubert Syndrome 21
Ataxia, Apnea, Splenomegaly, Dyspnea, Seizure, Respiratory failure, Oculomotor apraxia, Chronic s... OMIM:615636
Lowe Oculocerebrorenal Syndrome
Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-... OMIM:309000
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... ORPHA:763
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia OMIM:617301
Prader-Willi Syndrome
Hypoventilation, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response ... OMIM:176270
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Short neck, Dyspnea, Abnormal form of the vertebral b... ORPHA:3015
Atypical Werner Syndrome
Hepatic steatosis, Hypertriglyceridemia, Diabetes mellitus, Short stature, Abnormal circulating l... ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Seizure, Scolio... ORPHA:420794
Emanuel Syndrome
Torticollis, Sacral dimple, Kyphosis, Seizure, Scoliosis, Recurrent sinusitis, Intrauterine growt... OMIM:609029
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus OMIM:168601
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypsarrhythmia, ... ORPHA:447997
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Kyphosis, Asthma, Seizure, Hypogonadism, Scoliosis, Failure to thrive ORPHA:500055
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... ORPHA:15
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Mild short stature, Scoliosis OMIM:130060
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Infantile spasm... ORPHA:79329
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... OMIM:301044
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Myoclonus, Gait ataxia ORPHA:70595
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Seizure, Platyspondyly... ORPHA:1860
Tuberous Sclerosis Complex
Respiratory distress, Epileptic spasm, Infantile spasms, Focal-onset seizure, Pancreatic endocrin... ORPHA:805
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Shashi-Pena Syndrome
Kyphosis, Seizure, Intrauterine growth retardation, Scoliosis, Cervical C2/C3 vertebral fusion, F... OMIM:617190
Autosomal Recessive Ataxia, Beauce Type
Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Fasc... ORPHA:88644
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Postnatal growth reta... OMIM:619127
Cowden Syndrome 5
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Seizure, Thyroid adenoma, Scoliosis, Hypothyroidi... OMIM:615108
Aapoaiv Amyloidosis
Back pain, Diabetes mellitus, Hyperlipidemia, Chronic pulmonary obstruction, Elevated circulating... ORPHA:439232
15Q14 Microdeletion Syndrome
Seizure, Short stature, Kyphosis, Scoliosis ORPHA:261190
Dystonia-Aphonia Syndrome
Seizure, Myoclonus ORPHA:412217
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Clonic seizure, Abnormal curvature of the vertebral column, Hypertonia, Hepati... OMIM:619475
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hypergonadotropic hypogona... ORPHA:273
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... ORPHA:64
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Small for gestational age, Tach... ORPHA:555874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, EEG abnormality, Seizure, Myoclonus, Spasticity OMIM:253280
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Choreo... OMIM:278800
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, ... OMIM:253220
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Myoclonus ORPHA:1352
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Zimmermann-Laband Syndrome 2
Kyphosis, Short stature, Short neck OMIM:616455
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Short stature, Tremor, A... OMIM:614947
Glycogen Storage Disease Ib
Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperli... OMIM:232220
Ruvalcaba Syndrome
Kyphosis, Short stature, Scoliosis, Delayed puberty OMIM:180870
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis OMIM:181405
Cowden Syndrome 6
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Seizure, Thyroid adenoma, Scoliosis, Hypothyroidi... OMIM:615109
Tick-Borne Encephalitis
Speech apraxia, Back pain, Generalized-onset seizure, Incoordination, Elevated circulating C-reac... ORPHA:297
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Short neck, Kyphosis, Abnormal form of th... ORPHA:2311
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Short stature, Kyphoscoliosis, Short neck, Large for gestational age, Postnatal gro... ORPHA:96334
Urban-Rogers-Meyer Syndrome
Short stature, Short neck, Kyphosis, Obesity, Hypogonadism ORPHA:3409
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Increased theta frequ... ORPHA:459070
Micro Syndrome
Short stature, Kyphosis, Seizure, Scoliosis, Delayed puberty, Intrauterine growth retardation, Sp... ORPHA:2510
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, In... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Decreased response to growth hormone stimulation test, Pineal cyst, In... ORPHA:363958
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Growth delay... ORPHA:77259
Bruck Syndrome
Short stature, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis ORPHA:2771
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Seizure, Scoliosis, Pulmonary arterial hypertension, Spasticity, A... OMIM:616449
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Precocious puberty, Kyphosis, Xerostomia, Increased body weigh... ORPHA:398069
Glycogen Storage Disease Ia
Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Growth delay, Xanthelasma,... OMIM:232200
Trisomy 13
Seizure, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:3378
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocy... ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Increased intervertebral spac... ORPHA:93314
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Severe short stature, Dyspnea, Growth delay, Seizure, Respir... ORPHA:2556
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus ... ORPHA:488627
Weismann-Netter Syndrome
Severe short stature, Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral ... ORPHA:3344
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Lumbar hyperlordosis, Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis,... ORPHA:522077
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Intention tremor, Hepatomegaly, Ataxia, Seizure, Scoliosis, ... ORPHA:191
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Hyperlipidemia, Hyperuricemia ORPHA:35909
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Asthma, Poor coordination, Nasal flaring, Generalized non-motor (... ORPHA:466943
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Asthma, Obesity,... ORPHA:466950
Arthrogryposis Multiplex Congenita 6
Respiratory failure OMIM:619334
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Dyspnea, Kyphosis, Abnormal circulating creatine kinase concentration, Scol... ORPHA:2215
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Cowden Syndrome 1
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Seizure, Thyroid adenoma, Scoliosis, Lymphopenia,... OMIM:158350
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis OMIM:259440
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Partial agenesis of the corpus callosum, Myoclonic... OMIM:619512
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Hyperhidrosis, Ankle c... OMIM:609541
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Short stature, Elevated circulating creatine kinase concentration,... ORPHA:800
X Small Rings
Growth delay, Seizure, Bilateral tonic-clonic seizure, Short neck ORPHA:96201
Joubert Syndrome 1
Central apnea, Hemifacial spasm, Ataxia, Episodic tachypnea, Hepatic fibrosis, Oculomotor apraxia... OMIM:213300
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Scoliosis ORPHA:2920
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Bilateral tonic-clonic seizure, Hemivertebrae, Congeni... ORPHA:79500
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Blepharospasm, Hypertonia, Scoliosis OMIM:128100
Cockayne Syndrome Type 2
Lower limb spasticity, Hepatomegaly, Ataxia, Kyphosis, Scoliosis, Male hypogonadism, Intrauterine... ORPHA:90322
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Postnatal growth retardation, Prominent prot... OMIM:300966
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionate short-tru... ORPHA:583
Cohen Syndrome
Failure to thrive in infancy, Short stature, Kyphosis, Neutropenia, Obesity, Seizure, Scoliosis, ... ORPHA:193
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Kyphosis, Seizure, Vertebral segmentation defect, Scoliosis, Hyp... ORPHA:96169
Fabry Disease
Short stature, Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency,... ORPHA:324
Familial Osteodysplasia, Anderson Type
Kyphosis, Abnormal form of the vertebral bodies, Seizure, Hyperuricemia, Scoliosis ORPHA:2769
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Short neck, Kyphosis, Scoliosis, Oculomotor apraxia, Spasticity OMIM:301041
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ... OMIM:253010
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity OMIM:620089
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Kyphosis, Scoliosis ORPHA:404440
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Seizure, Kyphosis, Scoliosis OMIM:617061
Atelis Syndrome 2
Sacral dimple, Kyphosis, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conce... OMIM:620185
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Postnatal growth retardation, Hyperlipidemia, Insulin-resistant diabete... OMIM:248370
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Generalized-onset seizure, Failure to thrive in infancy, Lumbar hyperlordosis... ORPHA:500150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum, Kyphosis OMIM:619244
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... OMIM:183900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Bilateral tonic-clonic seizure, Kyphoscoliosis, Large for gestational age, ... ORPHA:457359
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis ORPHA:3342
Cockayne Syndrome B
Anhidrosis, Hepatomegaly, Severe short stature, Ataxia, Small for gestational age, Abnormal audit... OMIM:133540
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure OMIM:617809
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Kyphosis, Splenomegaly, Growth delay, Scoliosis, Pulmonary arterial ... OMIM:607015
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Kyphosis, Seizure, Sco... OMIM:610443
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Kyphosis, Growth delay, EEG abnormality, Hypogonadism, Scoliosis, Intraute... ORPHA:261349
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Seizure, Thoracic scoliosis, Kyphosis OMIM:603387
Cockayne Syndrome A
Anhidrosis, Hepatomegaly, Ataxia, Short stature, Abnormal auditory evoked potentials, Tremor, Dec... OMIM:216400
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Short neck, Recurrent pne... ORPHA:647
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
3C Syndrome
Short stature, Adrenal hypoplasia, Short neck, Postnatal growth retardation, Kyphosis, Hemiverteb... ORPHA:7
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Scoliosis ORPHA:2181
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia OMIM:608612
African Trypanosomiasis
Hepatomegaly, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Abnormal... ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Kyphosis, Seizure, Scoliosis, Failure to thrive, Hyperventilation OMIM:618050
16Q24.3 Microdeletion Syndrome
Kyphosis, Seizure, Colpocephaly, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia ORPHA:261250
Bruck Syndrome 1
Short stature, Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis OMIM:259450
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Thoracic scoliosis, Chylothorax, Respiratory failure OMIM:620278
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr... ORPHA:171629
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Seizure, Ly... OMIM:619708
Coffin-Lowry Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Hypertonia, Scoliosis, P... ORPHA:192
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Multilobulated spleen, Respiratory insufficiency, Intrauteri... OMIM:601186
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Hypohidrosis, Vertebral se... ORPHA:1005
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, Seizure, Lateral ventricle dilatation, Pulmonary arterial hyperten... ORPHA:464738
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial hypertension, ... OMIM:259420
Smith-Mccort Dysplasia 1
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Oromandibular Dystonia
Respiratory distress, Torticollis, Weight loss, Blepharospasm, Hyperkinetic movements ORPHA:93958
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Growth delay, Type II... ORPHA:91
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Short stature, Delayed puberty ORPHA:90154
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Dyspnea, Hyperlipidemia, Hypoalbuminemia, Pleural effusion ORPHA:567546
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis OMIM:617143
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Short neck, Asthma, Recurrent pneumonia, Generalized non-motor (a... OMIM:620330
Microphthalmia, Lenz Type
Short stature, Hyperlordosis, Kyphosis, Seizure, Scoliosis ORPHA:568
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Prec... OMIM:194190
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia,... OMIM:232240
Marshall-Smith Syndrome
Thoracic scoliosis, Short stature, Apnea, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyp... OMIM:602535
Holoprosencephaly 14
EEG abnormality, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure OMIM:619895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short stature, Short neck ORPHA:3082
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ky... OMIM:304150
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Pineal cyst... ORPHA:513456
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... OMIM:177170
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1883
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Simple febrile seizure, Kyphosis, Birth length less than 3rd percentil... ORPHA:464311
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Respiratory failure ORPHA:158687
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck ORPHA:2983
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:620066
3M Syndrome
Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrau... ORPHA:2616
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Short stature, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, ... ORPHA:2916
Hurler Syndrome
Hepatomegaly, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomega... OMIM:607014
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Myoclonic s... OMIM:280000
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Costello Syndrome
Short stature, Short neck, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheom... OMIM:218040
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... OMIM:223800
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Sotos Syndrome
Sacrococcygeal teratoma, Bilateral tonic-clonic seizure, Hypercalcemia, Tremor, Kyphosis, Poor co... ORPHA:821
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus, Short neck OMIM:617666
2Q31.1 Microdeletion Syndrome
Short stature, Short neck, Kyphosis, Seizure, Vertebral segmentation defect, Scoliosis, Abnormali... ORPHA:251014
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Anterior pituitary hypoplasia, Short stature, Kyphosis, Seizure, Scoli... ORPHA:464306
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Asthma, Adrenocorticotropic hormone excess, ... ORPHA:100079
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Short stature, Generalized myoclonic-atonic seizure, Poor... OMIM:614756
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Repeated pneumothoraces, Kyphosis, Scoliosis, Intrauterine growth retardation, Fai... OMIM:617602
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Kyphosis, Platyspondyly, Short stature OMIM:616294
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Kyphosis, Pineal cyst... OMIM:300967
1P36 Deletion Syndrome
Hepatic steatosis, Short stature, Hemiplegia/hemiparesis, Hypothyroidism, Kyphosis, Abnormality o... ORPHA:1606
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Kyphosis, Abnormality of the gallbladder, Abnormal form of the vertebral b... ORPHA:280
Noonan Syndrome 14
Short stature, Short neck, Kyphosis, Hyperhidrosis, Lateral ventricle dilatation, Lymphopenia OMIM:619745
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Abnormal pyramidal sign, Sacrococcygeal pilonidal abnormality, Seizure, Hyp... ORPHA:468631
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Respiratory insufficienc... ORPHA:140
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Mucopolysaccharidosis Type 4
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Short stature, Postnatal growth retardation, ... ORPHA:576
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:79107
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Hypopnea, Seizure, Restrictive ventilatory defect, Scoliosis, A... OMIM:619482
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Zttk Syndrome
Absent gallbladder, Short stature, Dysplastic corpus callosum, Kyphosis, Hemivertebrae, Growth de... OMIM:617140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Short stature ORPHA:90153
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Cockayne Syndrome Type 3
Hepatomegaly, Mild postnatal growth retardation, Kyphosis, Splenomegaly, Seizure, Scoliosis, Abno... ORPHA:90324
Kabuki Syndrome 1
Hemolytic anemia, Short stature, Bilateral tonic-clonic seizure with focal onset, Premature thela... OMIM:147920
Smith-Lemli-Opitz Syndrome
Short stature, Rhizomelia, Short neck, Kyphosis, Abnormality of the gallbladder, Abnormal form of... ORPHA:818
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Trisomy 20P
Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati... ORPHA:261318
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Short neck, Tremor, Generalized non-motor (absence) seizure, Seiz... OMIM:612474
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Short neck, Postnatal growth retardation, Pneumothorax, ... ORPHA:3404
Camurati-Engelmann Disease
Hepatomegaly, Ataxia, Cachexia, Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of... ORPHA:1328
Dysostosis, Stanescu Type
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:1798
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circ... OMIM:162300
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Butterfly vertebrae ORPHA:958
Genitopalatocardiac Syndrome
Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Scoliosis, Intrauterine ... ORPHA:2075
Classic Homocystinuria
Hepatomegaly, Pulmonary embolism, Hemiplegia/hemiparesis, Kyphosis, Seizure, Scoliosis ORPHA:394
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Seizure, Scoliosis OMIM:617011
Cole-Carpenter Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth re... ORPHA:2050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Irregular vertebral endp... ORPHA:3042
Cowden Syndrome
Ataxia, Follicular thyroid carcinoma, Short stature, Abnormality of the thyroid gland, Kyphosis, ... ORPHA:201
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Kyphosis, Increased circulati... ORPHA:2232
Orofaciodigital Syndrome Type 2
Tachypnea, Bilateral tonic-clonic seizure, Apnea, Short stature ORPHA:2751
Monosomy 9Q22.3
Short neck, Large for gestational age, Kyphosis, Seizure, Abnormality of the vertebral column ORPHA:77301
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Focal impaired awareness seizure, Scolios... OMIM:259770
Distal Triplication 15Q
Kyphosis, Intrauterine growth retardation, Scoliosis, Large for gestational age ORPHA:314588
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Ramon Syndrome
Short stature, Kyphosis, Seizure, Scoliosis, Decreased body weight OMIM:266270
Otopalatodigital Syndrome, Type Ii
Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Respiratory insufficienc... OMIM:304120
Mend Syndrome
Sacral dimple, Short stature, Kyphosis, Seizure, Hypertonia, Failure to thrive OMIM:300960
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity ORPHA:284339
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Short stature, Thoracolumbar scoliosis, Short neck, Kyphosis, Fuse... OMIM:265000
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Leukemia, Scoliosis OMIM:619951
Hajdu-Cheney Syndrome
Hepatomegaly, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly... ORPHA:955
Aspartylglucosaminuria
Hepatomegaly, Short stature, Kyphosis, Vacuolated lymphocytes, Spasticity, Seizure, Platyspondyly... OMIM:208400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis ORPHA:1969
Osteogenesis Imperfecta
Neonatal respiratory distress, Small for gestational age, Ataxia, Cervical kyphosis, Short statur... ORPHA:666
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decrease... OMIM:182210
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Marden-Walker Syndrome
Severe short stature, Kyphosis, Abnormal form of the vertebral bodies, Growth delay, Scoliosis, I... ORPHA:2461
17Q11 Microdeletion Syndrome
Abnormal central motor function, Short stature, Precocious puberty, Focal-onset seizure, Kyphosis... ORPHA:97685
Primrose Syndrome
Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein... OMIM:259050
Williams Syndrome
Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Abnormal form of the verte... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, Obesity, B... ORPHA:99413
Mosaic Monosomy X
Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, Obesity, B... ORPHA:99228
Monosomy X
Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, Obesity, B... ORPHA:99226
Turner Syndrome
Short neck, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Short stature, Obesity, B... ORPHA:881
Neurofibromatosis Type 1
Ataxia, Short stature, Abnormality of the endocrine system, Precocious puberty, Kyphosis, Chronic... ORPHA:636
Carney Complex
Neoplasm of the pancreas, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated c... ORPHA:1359
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Short stature, Kyphosis, Moderately short st... OMIM:119600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Kyphosis, Hypohidrosis, Growth delay, Seizure, Platyspondyly, Abnormality o... ORPHA:2273
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Kyphosis, Hypertonia, Disproportionate short-limb short stature, Scoliosis, Agenesis ... OMIM:619194
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Intrauterine growth retardation OMIM:616914
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Kyphosis, Irregular ... OMIM:143095
Osteogenesis Imperfecta, Type Iv
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Growth delay, Kyphosis, Short stature, Scoliosis OMIM:619557
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Proteus Syndrome
Thymus hyperplasia, Cachexia, Pulmonary embolism, Neoplasm of the thymus, Kyphosis, Splenomegaly,... ORPHA:744
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short stature, Short neck, Kyphosis, Scoliosis OMIM:616894
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Abdominal situs inversus OMIM:619123
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress... OMIM:610915
Coffin-Lowry Syndrome
Short stature, Kyphosis, Lumbar kyphosis, Seizure, Scoliosis, Decreased body weight OMIM:303600
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Short stature, Kyphosis, Tracheomalacia, Intrauterine growth retar... ORPHA:1393
Coffin-Siris Syndrome 1
Sacral dimple, Short stature, Postnatal growth retardation, Kyphosis, Partial agenesis of the cor... OMIM:135900
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccyx OMIM:249420
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Disproportionate short-limb s... ORPHA:1507
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Delayed puberty OMIM:619718
Somatomammotropinoma
Cerebral palsy, Hypogonadotropic hypogonadism, Diabetes mellitus, Elevated circulating growth hor... ORPHA:314769
Stickler Syndrome
Short stature, Cachexia, Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Abnormal form o... ORPHA:828
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Kyphosis, Hypogonadism, Scoliosis, Agenesis of corpus callosum ORPHA:2658
Poland Syndrome
Diabetes mellitus, Short neck, Kyphosis, Hemivertebrae, Acute leukemia, Vertebral segmentation de... ORPHA:2911
Acromegaly
Cerebral palsy, Hypogonadotropic hypogonadism, Diabetes mellitus, Elevated circulating growth hor... ORPHA:963
Marfan Syndrome
Spontaneous pneumothorax, Cachexia, Kyphosis, Scoliosis, Emphysema, Slender build, Spondylolisthesis ORPHA:558
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Branchiooculofacial Syndrome
Hyperlordosis, Short neck, Kyphosis, Postnatal growth retardation, Seizure, Intrauterine growth r... OMIM:113620
Cdags Syndrome
Kyphosis OMIM:603116
Homozygous Familial Hypercholesterolemia
Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic s... ORPHA:391665
Lymphedema-Distichiasis Syndrome
Kyphosis, Chylothorax OMIM:153400
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis ORPHA:198
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Viss Syndrome
Short stature, Kyphosis, Asthma, Pneumothorax, Hypereosinophilia, Dyspnea, Scoliosis, Pulmonary a... OMIM:619472
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Wrinkly Skin Syndrome
Short stature, Kyphosis, Scoliosis, Intrauterine growth retardation, Failure to thrive OMIM:278250
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Anterior concavity of thoracic vertebrae... OMIM:216340
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... OMIM:300106

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 Pcmt1

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 Pcmt1.

No publications found that use IMPC mice or data for Pcmt1.

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
Pcmt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcmt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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