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Gene: Neu1 MGI:97305

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

neuraminidase 1

Synonyms:

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Neu1 mutations

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

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

Human diseases associated with Neu1 (4 diseases)
Human diseases predicted to be associated with Neu1 (2287 diseases)

The table below shows human diseases associated to Neu1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphosis, Splenomegaly, Increas...	ORPHA:812
Juvenile Sialidosis Type 2	Lower limb spasticity, Hepatomegaly, Ataxia, Abnormality of the kidney, Underdeveloped supraorbit...	ORPHA:93399
Congenital Sialidosis Type 2	Hepatomegaly, Ataxia, Abnormality of the kidney, Edema, Hydrocephalus, Dysmetria, Hepatosplenomeg...	ORPHA:93400

The table below shows human diseases predicted to be associated to Neu1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Recurrent aspiration pneumonia, Abnormal lower motor neuron morphology, Waddling gait, Bi...	ORPHA:2590
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Edema, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenom...	OMIM:603553
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Para...	ORPHA:79124
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Diaphragmat...	ORPHA:99868
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hepatomegaly, Polyhydramnios, Short neck, Lymphedema, Splenomegaly, Pancreatic l...	OMIM:235255
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Elevated cir...	ORPHA:306511
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Telecanthus, Broad-based gait, Ataxia, Palpebral edema, Kyphoscol...	ORPHA:397709
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Hyperlordosis, Congenital ptosis, Gait disturbance, Difficulty wa...	ORPHA:352470
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Brain-Lung-Thyroid Syndrome	Respiratory distress, Chorea, Webbed neck, Choreoathetosis, Vesicoureteral reflux, Intention trem...	ORPHA:209905
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Ichthyosis	ORPHA:2274
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Decreased HDL cholesterol...	ORPHA:247585
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper...	OMIM:617404
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Unsteady gait, Ankle cl...	OMIM:617054
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Elevated circulating creatine kinase conc...	OMIM:615290
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Microscopic hematuria, P...	ORPHA:567546
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hepatomegaly, Polyhydramnios, Short neck, Splenomegaly, Pancreatic lymphangiecta...	ORPHA:1655
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Polyhydramnios, Spinal rigidity, Hyperlordosis, Rigidity, Respirator...	OMIM:161800
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly...	OMIM:616586
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly...	ORPHA:79312
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ...	OMIM:617021
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Scoliosis, Generalize...	OMIM:616540
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary ...	ORPHA:447760
Autosomal Recessive Spastic Paraplegia Type 76	Lower limb spasticity, Ataxia, Babinski sign, Functional abnormality of the bladder, Limb ataxia,...	ORPHA:488594
Acute Intermittent Porphyria	Back pain, Dark urine, Renal insufficiency, Hyponatremia, Urinary incontinence, Dysuria, Tremor, ...	ORPHA:79276
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration, Tremo...	OMIM:614018
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Edema, Pericardial effusion, Weight loss, Intestinal lympha...	ORPHA:90362
Lymphangiectasia, Intestinal	Edema, Pedal edema, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Apnea, Cryptorchidism...	OMIM:214110
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Respiratory insufficiency, Myoclonus,...	ORPHA:139406
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Ptosis, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seiz...	OMIM:610539
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle...	OMIM:600561
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Fetal pyelectasis, Seizure, Hy...	ORPHA:50810
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturba...	ORPHA:1192
Chédiak-Higashi Syndrome	Edema, Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Facial palsy, Elevated circulating creatine kinase concentration, Trem...	OMIM:159950
Iatrogenic Botulism	Cerebral palsy, Dyspnea, Diaphragmatic paralysis, Xerostomia, Urinary retention, Ptosis	ORPHA:254509
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait...	ORPHA:95434
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Edema, Abnormal blood ion concentration, Dehydration, R...	ORPHA:79404
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Ataxia, Short neck, Respiratory insufficiency, Seizure, Myoclonus, Spasticity, Fail...	OMIM:612015
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Edema, Abnormality of the pancreas, Fa...	ORPHA:2315
Fatal Familial Insomnia	Apnea, Ataxia, Weight loss, Urinary retention, Myoclonus	OMIM:600072
Combined Saposin Deficiency	Hepatomegaly, Generalized clonic seizure, Splenomegaly, Babinski sign, Hyperkinetic movements, My...	OMIM:611721
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Foix-Alajouanine Syndrome	Back pain, Low back pain, Neurogenic bladder, Urinary incontinence, Progressive spastic parapares...	ORPHA:79093
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Hypertonic dehydration, Seizure, Hypernatremia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypertonic dehydration, Seizure, Hypernatremia, Failure to thrive	OMIM:304800
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoatheto...	ORPHA:71277
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Apnea, ...	OMIM:617799
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, Paraplegia, Sh...	OMIM:303350
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Ataxia, Palpebral edema, Unilateral ...	ORPHA:221139
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis,...	OMIM:226300
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Kyphosis, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Seiz...	ORPHA:87876
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia...	ORPHA:99027
Wound Botulism	Cerebral palsy, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysi...	ORPHA:178475
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
H Syndrome	Abnormal eyebrow morphology, Psoriasiform dermatitis, Hypertriglyceridemia, Abnormality of the ki...	ORPHA:168569
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia, Generalized edema	OMIM:207731
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphosis, Splenomegaly, Increas...	ORPHA:812
Inhalational Botulism	Paralysis, Dyspnea, Xerostomia, Urinary retention, Ptosis	ORPHA:254504
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Postural tremor, Proteinuria, Ede...	OMIM:254900
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Epicanthus, Ataxia, Involuntary movements, Inability to walk, Chorea, Synophrys, Upper eyelid ede...	OMIM:617804
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Lymphedema	ORPHA:1116
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Palpebral edema, Elevated circulating creatine kinase concentration,...	ORPHA:269
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Dystonia, Spas...	OMIM:619966
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia, Hypoproteinemic edema	OMIM:226200
Nemaline Myopathy 2	Waddling gait, Apnea, Polyhydramnios, Spinal rigidity, Hyperlordosis, Respiratory insufficiency d...	OMIM:256030
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, ...	OMIM:615924
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Abnor...	ORPHA:391417
Phelan-Mcdermid Syndrome	Sacral dimple, Thick eyebrow, Palpebral edema, Abnormality of the kidney, Epicanthus, Lymphedema,...	OMIM:606232
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Recurrent pneumonia, Hepatosplenomegaly, Narrow palpebral fissure, Seizure, Down...	ORPHA:397612
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Apnea, Infantile spasms, Tremor, Cryptorchidism, Jaundice, Respira...	OMIM:608093
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia,...	OMIM:617977
Adrenomyodystrophy	Megacystis, Seizure, Abnormality of the urinary system, Failure to thrive, Hepatic steatosis	ORPHA:977
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Oligohydramnios	OMIM:619365
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Rigidity, Chorea, Dysmetr...	OMIM:607136
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, Typical absence...	OMIM:620145
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive, Anemia	OMIM:610090
Atypical Rett Syndrome	Dystonia, Sudden episodic apnea, Involuntary movements, Infantile spasms, Episodic tachypnea, Tre...	ORPHA:3095
Malaria	Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Ga...	ORPHA:673
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Botulism	Cerebral palsy, Diaphragmatic paralysis, Xerostomia, Respiratory insufficiency, Urinary retention	ORPHA:1267
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Spinal rigidity, Reduced forced vita...	OMIM:255600
Porphyria, Acute Intermittent	Urinary incontinence, Dysuria, Paralysis, Seizure, Respiratory paralysis, Urinary retention, Hepa...	OMIM:176000
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, Seizure, Hyperk...	OMIM:614254
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Aminoaciduria, Abnormality of ...	OMIM:250620
Foxg1 Syndrome	Dystonia, Bilateral tonic-clonic seizure, Kyphoscoliosis, Infantile spasms, Focal-onset seizure, ...	ORPHA:561854
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema, Absent eyelashes, Abnormali...	ORPHA:69735
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Scoliosis	OMIM:213000
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Limb tremor, Focal tonic seizure, Seizure, Hypertonia, Myoclonus, Prominent supraorbital ridges, ...	OMIM:300699
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomegal...	ORPHA:1328
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Respiratory insufficiency d...	OMIM:611067
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Pelvic mass, Reduced C-peptide level, Weight loss,...	ORPHA:2126
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi...	ORPHA:26793
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgen...	OMIM:614866
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Weakness due to upper motor neuro...	ORPHA:466722
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter...	ORPHA:90324
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Hydroureter, Palpebral edema, Telecanthus, Abnormality of the upper urinary tract, Sh...	ORPHA:2995
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation, Polyhydramnios, Seizure, Hyper...	ORPHA:166063
Myasthenic Syndrome, Congenital, 16	Apnea, Periodic paralysis, Hyperlordosis, Bilateral ptosis, Gait disturbance, Ptosis	OMIM:614198
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Hyperlordosis, Respiratory insufficiency, Tip-toe gait, Scoliosis, Difficulty walk...	OMIM:620389
Ring Chromosome 8 Syndrome	Epicanthus, Abnormality of the ureter, Hydronephrosis, Polyhydramnios	ORPHA:1450
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Macs Syndrome	Epicanthus, Palpebral edema, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Bronchiectasis, I...	OMIM:613075
Dengue Fever	Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Leukopenia, Ascites, Hypoproteinemia, Thromboc...	ORPHA:99828
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Agel Amyloidosis	Ataxia, Proteinuria, Edema, Facial palsy, Bilateral ptosis, Xerostomia, Stage 5 chronic kidney di...	ORPHA:85448
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, ...	OMIM:256731
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Polyhydramnios, Cryptorchidism, Babinski sign,...	OMIM:619847
Peho-Like Syndrome	Epicanthus, Bilateral tonic-clonic seizure, Edema, Status epilepticus, Myoclonus, Ventriculomegaly	OMIM:617507
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
X-Linked Intellectual Disability, Shashi Type	Palpebral edema, Blepharophimosis, Obesity, Seizure, Prominent supraorbital ridges, Macroorchidism	ORPHA:85286
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Elevated circulating creatine kinase concentration, Diaphragm...	OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Respiratory insufficiency, Seizure, Athetosis, Gait disturbance, Myo...	OMIM:618241
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Dystonia, Elevated circulating acylcarnitine concentration, Seizure, Hypert...	ORPHA:26792
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, Polyhydramnios, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclon...	OMIM:619971
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Palpebral edema, Highly arched eyebrow, Hypertonia, Long eyelashes, Nonprogressive cerebellar ata...	ORPHA:466688
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Hemiplegia/hemiparesis, Chorea...	ORPHA:289916
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weak...	OMIM:610687
Rigid Spine Syndrome	Waddling gait, Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testi...	ORPHA:97244
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,...	ORPHA:52430
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Waddling gait, Unsteady gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentr...	ORPHA:280333
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Bilateral tonic-clonic seizure, Palpebral edema, Hyposerinemia, Hypertonia	ORPHA:79350
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Polyhydramnios, Edema, Pericardial effusion, Large for gestatio...	ORPHA:363705
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Elevated circulating creatine kinase concentration, Hyperlordosis, Dyspnea, Exertional dyspnea, G...	OMIM:615156
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ina...	ORPHA:206546
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Kinetic tremor, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased v...	OMIM:616817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, ...	OMIM:613156
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Congenital Analbuminemia	Small for gestational age, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal edema, Increased a...	ORPHA:86816
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Waddling gait, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordo...	ORPHA:62
Osteopetrosis, Autosomal Recessive 5	Generalized-onset seizure, Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Hepato...	OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis...	OMIM:606612
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Hydronephrosis, Ptosis	DECIPHER:70
20Q11.2 Microduplication Syndrome	Sacral dimple, Epicanthus, Palpebral edema, Periorbital edema, Cryptorchidism, Seizure, Abnormal ...	ORPHA:363659
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Palpebral edema, Kyphosis, Seizure, Scoliosis, Blepharophimosis, Downslanted palpebra...	ORPHA:261144
Pontocerebellar Hypoplasia, Type 4	Polyhydramnios, Seizure, Respiratory failure, Hypertonia, Gliosis, Myoclonus, Spasticity	OMIM:225753
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,...	OMIM:616230
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Tremor, Apneic episodes precipitated by illn...	OMIM:312170
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Abnormal...	ORPHA:29073
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Failure to thrive in infancy, Proteinuria, Splenomegaly, Abnormal pyramidal...	ORPHA:834
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Broad-based gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dyspn...	ORPHA:435387
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Vacuolated lymphocytes, Seizure, Abnormality of ext...	OMIM:204200
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ...	OMIM:615400
Adrenomyeloneuropathy	Back pain, Urinary incontinence, Abnormal circulating fatty-acid concentration, Progressive spast...	ORPHA:139399
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Respiratory distress, Kyphoscoliosis	OMIM:619099
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Clonic seizure, Synophrys, Abnormal curvature of the vertebral column, Hyperto...	OMIM:619475
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Pontocerebellar Hypoplasia, Type 1E	Respiratory failure requiring assisted ventilation, Myoclonus, Polyhydramnios	OMIM:619303
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Epicanthus, Palpebral edema, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, ...	OMIM:252500
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, Respiratory insufficiency, ...	OMIM:617290
Developmental And Epileptic Encephalopathy 1	Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Dyspnea, Ab...	OMIM:308350
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Seizure, Failure to thrive	ORPHA:796
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Ataxia, Palpebral edema, Small fo...	ORPHA:99843
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnor...	ORPHA:363400
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cereb...	ORPHA:248111
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ...	ORPHA:225154
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Nizon-Isidor Syndrome	Unilateral ptosis, Hypospadias, Sparse eyebrow, Upper eyelid edema, Seizure, Thoracolumbar kyphos...	OMIM:618872
Thyrocerebrorenal Syndrome	Renal insufficiency, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Nephri...	ORPHA:3327
Bohring-Opitz Syndrome	Facial hypotonia, Nephroblastoma, Apnea, Cardiomegaly, Inability to walk, Synophrys, Seizure, Low...	ORPHA:97297
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,...	ORPHA:26791
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Infantile spasms, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Long palpebral fissure, Hy...	OMIM:619797
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus, Dy...	OMIM:618285
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G...	OMIM:614561
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Dystonia, Ataxia, Polyhydramnios, Tremor, Recurrent pneumonia, Dehydration,...	OMIM:616271
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey...	OMIM:616421
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Chorea, ...	ORPHA:485350
Gm1 Gangliosidosis	Tremor, Hydrops fetalis, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration ...	ORPHA:354
Isolated Glycerol Kinase Deficiency	Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Seizure, Scoli...	ORPHA:408
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom...	OMIM:269920
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Jaundice, Increased circulating ferritin...	OMIM:603552
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Babinski sign, Seizure, Lateral ventricle dilatation, Gliosis, Myoclonus, G...	OMIM:221770
Triosephosphate Isomerase Deficiency	Normocytic anemia, Respiratory distress, Tremor, Cholecystitis, Chronic hemolytic anemia, Hemolyt...	OMIM:615512
Congenital Myopathy 19	Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Renal atrophy...	OMIM:618578
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis, Oligohydramnios	OMIM:619431
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor	OMIM:618876
Spinocerebellar Ataxia 2	Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidity, ...	OMIM:183090
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Hemimegalencephaly	Epileptic spasm, Abnormal neuron morphology, Focal motor seizure, Focal tonic seizure, Hemiparesi...	ORPHA:99802
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Immunodeficiency 43	Lung abscess, Bronchiectasis, Hypoalbuminemia, B lymphocytopenia, Decreased circulating beta-2-mi...	OMIM:241600
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria, Edema, Seizure, Thrombocytopenia	OMIM:189800
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Cough, Splenomegaly, Dystonia, Generalized myoclonic seizure,...	ORPHA:77260
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia	OMIM:125370
Congenital Myopathy 16	Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Tongue tremor, Scoliosis	OMIM:618524
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesit...	OMIM:615993
Baralle-Macken Syndrome	Urinary incontinence, Focal-onset seizure, Kyphosis, Inability to walk, Obesity, Upslanted palpeb...	OMIM:619255
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated c...	ORPHA:353
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Hyperkeratosis, Limbal dermoid, Lymphangioma...	OMIM:176920
Macdermot-Winter Syndrome	Highly arched eyebrow, Seizure, Hydronephrosis, Ventriculomegaly	OMIM:247990
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Cryptorchidism, Megac...	OMIM:604292
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ...	OMIM:301020
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Epicanthus, Elevated circulating creat...	OMIM:614576
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Paroxysmal Hemicrania	Palpebral edema, Rhinorrhea, Focal sensory seizure with olfactory features, Rhinitis, Conjunctiva...	ORPHA:157835
Developmental And Epileptic Encephalopathy 23	Double eyebrow, Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Syn...	OMIM:615859
13Q12.3 Microdeletion Syndrome	Kyphoscoliosis, Cryptorchidism, Obesity, Upper eyelid edema, Failure to thrive	ORPHA:412035
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Asthma, Upper eyelid edema, Tip-toe gait, Neonata...	ORPHA:293939
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Seizure, Ataxia, Myoclonus	OMIM:600143
Hyperphenylalaninemia, Bh4-Deficient, C	Hyperphenylalaninemia, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Ck Syndrome	Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure...	OMIM:300831
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Decreased urinary potassium,...	ORPHA:79102
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Seizure, 3-Methylglutaconic aciduria	OMIM:619813
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Gait ataxia, Weight loss, Seizure, Aminoaciduria, Proximal tubulo...	OMIM:612075
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ac...	OMIM:251100
Visceral Myopathy 1	Polyhydramnios, Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly, Epicanthus, Increased serum pyruvate, Seizure, Organic aciduria	OMIM:614741
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo...	OMIM:606777
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Seizure, Myoclonus, Spasticity	OMIM:256730
Peho Syndrome	Epicanthus, Palpebral edema, Infantile spasms, Hydrocephalus, Pedal edema, Seizure, Peripheral ed...	ORPHA:2836
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Urinary incontinenc...	ORPHA:464282
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias, Seizure, Scoliosis, Failure to thrive	OMIM:300934
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Myopathy, Centronuclear, 2	Waddling gait, Ptosis, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakn...	OMIM:255200
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Crypt...	OMIM:611890
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Camptocormia, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, My...	OMIM:606703
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Abnormal pyramidal sign, Spasti...	ORPHA:445038
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Cardiomegaly,...	ORPHA:268
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Edema, Tremor, Polyminimyoclonus, Stridor, Impaired tandem gait, Fasciculations, ...	OMIM:619574
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Megacystis, Pyelonephrit...	OMIM:619351
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Seizure, Scoliosis	OMIM:300518
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Urinary incontinence, Kyphosis, Babinski sign, Spastic paraplegia, Hand tr...	OMIM:614409
Spastic Paraplegia 10, Autosomal Dominant	Lower limb spasticity, Ataxia, Parkinsonism, Urinary incontinence, Babinski sign, Spastic paraple...	OMIM:604187
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Ataxia, Thick eyebrow, Upper eyelid edema	OMIM:616819
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Generalized myo...	OMIM:231000
Sunct Syndrome	Ptosis, Palpebral edema, Facial edema, Conjunctival hyperemia, Rhinorrhea	ORPHA:57145
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scol...	OMIM:615761
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Lymphedema, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Hyperkeratosi...	ORPHA:79279
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98863
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Ptosis, Facial palsy, Polyhydramnios, Respiratory insufficiency due to musc...	OMIM:300580
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Hydrocephalus, Rectal abscess, ...	OMIM:600145
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Myopathy, Distal, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Facial palsy, Tip-toe g...	OMIM:160500
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
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
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, U...	OMIM:600363
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait a...	ORPHA:254881
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Hereditary Geniospasm	Abnormality of mentalis muscle, Chin myoclonus, Intention tremor	ORPHA:53372
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insuffici...	OMIM:220110
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Difficulty walking, Hyperlordosis	ORPHA:363454
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Hyperlordosis, Tremor, Kyphosis,...	OMIM:128100
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Synophrys, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic ...	OMIM:617303
Classic Mycosis Fungoides	Hepatomegaly, Edema, Abnormal eyelid morphology, Splenomegaly, Lymphadenopathy, Hyperkeratosis, A...	ORPHA:2584
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu...	ORPHA:352596
Juvenile Sialidosis Type 2	Lower limb spasticity, Hepatomegaly, Ataxia, Abnormality of the kidney, Underdeveloped supraorbit...	ORPHA:93399
Acute Transverse Myelitis	Back pain, Decreased circulating copper concentration, Abscess, Urinary incontinence, Paraparesis...	ORPHA:139417
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Short neck, Leukopenia, Periorbital fullness, Thoracic kyphosis, Conjunctiv...	ORPHA:505248
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Lymphadenopa...	ORPHA:50251
Rin2 Syndrome	Cryptorchidism, Upper eyelid edema, Scoliosis, Infra-orbital fold, Downslanted palpebral fissures	ORPHA:217335
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased serum pyruvate, Involuntary movements, Respiratory insufficiency,...	ORPHA:238329
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Elevated circulating creatinine concentration, A...	OMIM:616733
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Palpebral edema...	ORPHA:50918
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Bilateral ptosis,...	ORPHA:330050
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Polyuria, Dehydration, Proximal tubulopathy, Myoclonus, Failure to thrive, ...	OMIM:560000
Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98853
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin...	ORPHA:79263
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Ck Syndrome	Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp...	ORPHA:251383
Igg4-Related Ophthalmic Disease	Sinusitis, Palpebral edema, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal...	ORPHA:449563
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Unsteady gait, Dysmetr...	ORPHA:3041
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Neuroblastoma, Susceptibility To, 1	Ataxia, Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Ho...	OMIM:256700
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Polyhydramnios, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck...	ORPHA:171436
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Hyperlordosis, Respiratory insufficiency, Steppage gait, Gait disturbance,...	OMIM:620285
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Bilateral tonic-clonic seizure, Hyper...	ORPHA:369840
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl...	OMIM:619065
Ascher Syndrome	Abnormal eyelid morphology, Ptosis, Blepharophimosis, Upper eyelid edema	ORPHA:1253
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Generalized-onset seizure, Failure to thrive in infancy, Respiratory insuff...	ORPHA:254875
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Spastic tetraparesis, Focal...	OMIM:605711
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Methylmalonic acidemia, Stage 5 chronic kidney disease, Dehyd...	OMIM:251000
Gapo Syndrome	Palpebral edema, Sparse eyelashes, Sparse eyebrow, Nephrolithiasis, Abnormal form of the vertebra...	ORPHA:2067
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence	ORPHA:2795
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations, Scoliosis...	ORPHA:1143
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Urinary incontinence, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:620094
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Recurrent myoglobinuria, Proteinuria, Elevated circulating creatine kinase ...	OMIM:607426
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Dystonia, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis...	OMIM:314580
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Seizure, Myoclonus, Failure to thrive, Ventriculomegaly	OMIM:618251
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, ...	OMIM:607823
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Lumbar hyperlordosis, Elevated circulating creatine kinase c...	ORPHA:86812
Glycine Encephalopathy 1	Seizure, Hyperglycinuria, Hyperglycinemia, Myoclonus	OMIM:605899
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ...	ORPHA:2382
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hypertonia, Gliosis, Hepatomegaly, Hypov...	OMIM:203700
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Edema, Tachypnea, Dehydration, Leukopenia, 3-Methylglutaric aciduria, Hepatomegaly, Ketonu...	ORPHA:20
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal...	OMIM:608013
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Alexander Disease Type I	Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Seizure, Scoliosis, Palatal...	ORPHA:363717
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ptosis, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus...	OMIM:612016
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Gliosis, Aspiration pneumonia, Hepatomegaly, Ataxia, Micronodular cirrhosis, Seizure, Myoclonus, ...	OMIM:301072
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hydrocephalus, Hepatosplenomegaly, ...	OMIM:259710
Phosphoserine Aminotransferase Deficiency	Apnea, Hypoglycinemia, Hyposerinemia, Seizure, Hypertonia, Myoclonus	OMIM:610992
King-Denborough Syndrome	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n...	OMIM:619542
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ...	ORPHA:1830
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Myoclonus, Intractable, Neonatal	Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation, Ptosis	OMIM:617235
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Urinary incontinence, Tremor, Rigidity, Chorea, Abnormal circulating calcium concen...	OMIM:213600
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive	OMIM:609056
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Spinal rigidity, Hyperlordosis, Respiratory insufficiency, Gait disturbance	ORPHA:157973
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine kinase concentration...	OMIM:167320
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Sparse eyelashes, Kyphoscoliosis, Short neck, Edema, Polyhydramnios, Sparse eye...	OMIM:302960
X-Linked Intellectual Disability Due To Gria3 Mutations	Bilateral tonic-clonic seizure, Facial hypotonia, Kyphosis, Cryptorchidism, Babinski sign, Microp...	ORPHA:364028
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Seizu...	OMIM:246450
Tarp Syndrome	Thick eyebrow, Extramedullary hematopoiesis, Apnea, Broad-based gait, Cryptorchidism, Horseshoe k...	ORPHA:2886
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Hydrocephal...	OMIM:609757
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Tortuosity of conju...	OMIM:230000
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements...	ORPHA:98805
Axial Mesodermal Dysplasia Spectrum	Short neck, Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephalus, Abnormality of th...	ORPHA:1834
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move...	ORPHA:98810
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Failure to thrive in infancy, Spastic tetraparesis, Short neck, Hyposerinemia, S...	ORPHA:284417
Hyperekplexia 4	Kyphoscoliosis, Seizure, Respiratory failure, Hypertonia, Myoclonus	OMIM:618011
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
X-Linked Intellectual Disability, Stevenson Type	Palpebral edema, Obesity, Thick eyebrow	ORPHA:85325
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Ataxia, Apnea, Myoclonic seizure, Seizure, Myoclonus, Spasticity, Ptosis	OMIM:618225
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Mulchandani-Bhoj-Conlin Syndrome	Epicanthus, Hyperlordosis, Horseshoe kidney, Scoliosis, Failure to thrive	OMIM:617352
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Combined Oxidative Phosphorylation Deficiency 45	Epicanthus, Ataxia, Short neck, Tremor, Seizure, Failure to thrive	OMIM:618951
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Metaphyseal Chondrodysplasia, Spahr Type	Gait disturbance, Scoliosis, Hyperlordosis	ORPHA:2501
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur...	OMIM:618060
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis,...	ORPHA:2414
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia,...	OMIM:242900
Borjeson-Forssman-Lehmann Syndrome	Ptosis, Kyphosis, Cryptorchidism, Obesity, Seizure, Narrow palpebral fissure, Prominent supraorbi...	OMIM:301900
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ...	ORPHA:93101
X-Linked Intellectual Disability, Schimke Type	Failure to thrive in infancy, Choreoathetosis, Vesicoureteral reflux, Spasticity, Hydronephrosis	ORPHA:85285
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, H...	OMIM:616505
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr...	OMIM:105200
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c...	OMIM:608799
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Neurogenic bladder, Polyhydramnios, Vocal cord paralysis, Seizure, Myoclonus, Sc...	ORPHA:500144
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Reduced vital capacity, Hyperlordosis	OMIM:607088
Valinemia	Hypervalinemia, Failure to thrive, Hyperkinetic movements, Valinuria	OMIM:277100
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Generalized-onset seizure, Small for gestational age, Elevated circulatin...	OMIM:612073
Non-Specific Early-Onset Epileptic Encephalopathy	Ptosis, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady ga...	ORPHA:442835
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Telecanthus, Small for...	OMIM:301056
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thromboc...	ORPHA:158048
Myasthenic Syndrome, Congenital, 5	Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoli...	OMIM:603034
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis	OMIM:619042
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Neonatal respiratory distress, Ataxia, Babinski sign, Dysmetria, Congenital laryngeal stridor, Re...	OMIM:618356
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Head titubation, Inability to wal...	OMIM:618877
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Tachypnea, Hyperammonemia, Weight loss, Keratoconjunctivitis, Seizu...	ORPHA:79242
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Edema, Short neck, Pericardial effusion, Kyphosis, Hepatosplenom...	OMIM:608776
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Ataxia, Myoclonus	OMIM:204500
Monosomy 22Q13.3	Renal dysplasia, Sacral dimple, Epicanthus, Palpebral edema, Lymphedema, Obesity, Seizure, Long e...	ORPHA:48652
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Edema	ORPHA:498359
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Congenital Sialidosis Type 2	Hepatomegaly, Ataxia, Abnormality of the kidney, Edema, Hydrocephalus, Dysmetria, Hepatosplenomeg...	ORPHA:93400
Aicardi-Goutieres Syndrome 9	Edema, Hypertonia, Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic an...	OMIM:619487
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Thyrocerebroretinal Syndrome	Ataxia, Slurred speech, Seizure, Myoclonus, Nephritis, Thrombocytopenia	OMIM:274240
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Spastic paraplegia, Renal hypoplasia, Tetraplegia, My...	ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Seizure, Renal t...	OMIM:614922
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Babinski sign, Progressive cerebellar ataxia, Tip-toe ga...	ORPHA:2596
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Respiratory distress, Nonimmune h...	ORPHA:367
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Respiratory insufficiency	ORPHA:2812
Developmental And Epileptic Encephalopathy 99	Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur...	OMIM:619606
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ty...	OMIM:607682
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Small for gestational age, Hypospadias, Polyhydramnios, Short neck, Cardiomegaly, Hy...	OMIM:616897
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Clonic seizure, Chor...	ORPHA:79097
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the...	OMIM:253000
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin co...	ORPHA:90041
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Ma...	OMIM:608836
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic acidemia, Dehydration,...	OMIM:251110
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr...	OMIM:212140
Den Hoed-De Boer-Voisin Syndrome	Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu...	OMIM:619229
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis	ORPHA:1259
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Urinary incontinence, Cho...	OMIM:618093
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Edema, Mesangial hypercel...	OMIM:617575
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Brad...	ORPHA:13
Myasthenic Syndrome, Congenital, 14	Waddling gait, Hyperlordosis, Scoliosis, Weakness of facial musculature, Mildly elevated creatine...	OMIM:616228
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Obesity, Hydronephrosis, Oculomotor apraxia, ...	OMIM:619185
Benign Familial Neonatal Epilepsy	Apnea, Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic ...	ORPHA:1949
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, K...	OMIM:211530
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Myopathy With Extrapyramidal Signs	Clonus, Elevated circulating creatine kinase concentration, Short neck, Tremor, Chorea, Choreoath...	OMIM:615673
Takenouchi-Kosaki Syndrome	Ataxia, Hypospadias, Increased mean platelet volume, Lymphedema, Unilateral renal agenesis, Throm...	OMIM:616737
Tularemia	Respiratory distress, Brain abscess, Pneumonia, Conjunctival hyperemia, Abnormal nasopharyngeal a...	ORPHA:3392
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Tip-toe gait,...	ORPHA:267
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Ataxia, Pericardial effusion, Hem...	ORPHA:36412
Parkes Weber Syndrome	Back pain, Paraplegia, Abnormal lymphatic vessel morphology, Nephrotic syndrome, Abnormality of t...	ORPHA:90307
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Seiz...	OMIM:222300
Cdkl5-Deficiency Disorder	Infantile spasms, Focal-onset seizure, Kyphosis, Synophrys, Abnormal respiratory system physiolog...	ORPHA:505652
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi...	ORPHA:401866
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Elevate...	OMIM:612953
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Ataxia, Apnea, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Synophrys, Opisthot...	OMIM:614969
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Rigidity, Respiratory failure, Myoclonu...	OMIM:619057
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv...	ORPHA:845
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Cryptorchidism, Megacystis	ORPHA:2241
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Whipple Disease	Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Hydrocephalus, Mediastinal lymphadeno...	ORPHA:3452
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Gliosis, Hypotriglyceridemia, Hepatomegaly, Lagophthalm...	ORPHA:404454
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F...	ORPHA:208447
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Spastic...	ORPHA:251282
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl...	ORPHA:240085
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Synophrys, Seizure, Truncal obesity, Gait disturbance, Prominent supraorbital ridges, S...	ORPHA:2429
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated...	OMIM:612852
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Spinocerebellar Ataxia 50	Ptosis, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dyston...	OMIM:612126
Galloway-Mowat Syndrome 5	Epicanthus, Ataxia, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulo...	OMIM:617731
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Infantile spasms, Inability to walk, Synophrys, Generalized non-motor (absence) seiz...	ORPHA:411986
Netherton Syndrome	Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Asthma, Dehydration, Seizure, Aminoaciduria, Co...	ORPHA:634
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Polycystic liver disease, Dyspnea, Renal cyst, Ascites, Increased total bilirubin	OMIM:174050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin...	OMIM:600462
X-Linked Charcot-Marie-Tooth Disease Type 3	Tremor, Inability to walk, Restrictive ventilatory defect, Gait disturbance, Scoliosis, Spastic p...	ORPHA:101077
Baker-Gordon Syndrome	Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem...	OMIM:618218
Noonan Syndrome 4	Ureteral duplication, Epicanthus, Polyhydramnios, Short neck, Large for gestational age, Cryptorc...	OMIM:610733
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Parakeratosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia,...	OMIM:618527
Immunodeficiency 95	Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia	OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Myoclonic seizure, Respiratory failure, Hypertonia, Myoclonus, Hydronephrosis	OMIM:618240
Spinocerebellar Ataxia, Autosomal Recessive 32	Ptosis, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus, Hyp...	OMIM:619862
Riboflavin Transporter Deficiency	Ataxia, Facial palsy, Cachexia, Tremor, Respiratory insufficiency, Seizure, Myoclonus, Ptosis	ORPHA:97229
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial ...	ORPHA:292
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac...	ORPHA:1302
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive	OMIM:620007
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ...	OMIM:614487
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Epicanthus, Seizure, Small for gestational age	ORPHA:85288
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Unsteady gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Difficul...	OMIM:613818
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea, Short neck, Tremor, Choreoathetosis, Ataxia, Parkinsonism, Obesity, Seizure, Shuffling gai...	OMIM:300055
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Generalized-onset seizure, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis...	OMIM:618443
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Appendicular spasticity, Epicanthus, Unilateral renal agenesis, Cryptorchidism, Increased nuchal ...	OMIM:618494
Familial Visceral Myopathy	Vesicoureteral reflux, Hydroureter, Abdominal situs inversus, Megacystis	ORPHA:2604
Blepharochalasis And Double Lip	Blepharochalasis	OMIM:109900
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Epicanthus, Ataxia, Kyphoscoliosis, Splenomegaly, Inability to walk, Babinski sign,...	OMIM:616354
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Small for gestational age, Seizure, Lateral ventricle dilatation, Hyper...	ORPHA:3078
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Myotonia Permanens	Epicanthus, Hyperlordosis, Dyspnea, Asthma, Hypertonia, Gait disturbance	ORPHA:99735
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Edema, Elevated circulat...	ORPHA:90051
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Telecanthus, Highly arc...	OMIM:618161
Mogs-Cdg	Respiratory distress, Hepatomegaly, Thoracic scoliosis, Pulmonary edema, Apnea, Hypoventilation, ...	ORPHA:79330
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	ORPHA:98855
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Facial myokymia, Dystonia, Difficulty walking, Limb hypertonia	ORPHA:324588
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Japanese Encephalitis	Respiratory distress, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, H...	ORPHA:79139
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Respiratory distress, Respirat...	OMIM:613561
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Ataxia-Telangiectasia-Like Disorder	Dilated fourth ventricle, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, ...	ORPHA:251347
Acromegaly	Cerebral palsy, Palpebral edema, Dysuria, Kyphosis, Thickened skin, Wide penis, Long penis, Spina...	ORPHA:963
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Weakness of facial musculature,...	ORPHA:536516
Diastrophic Dysplasia	Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hy...	OMIM:222600
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Methylmalonic aciduria, Hyp...	OMIM:615578
Spinocerebellar Ataxia 13	Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas...	OMIM:605259
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ...	ORPHA:1935
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervert...	OMIM:607944
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Chorea, Dysmetria, Myoclonic seizure, Hepatic fibrosis, Gliosis, Chondroiti...	OMIM:615273
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Reduction of oligodendroglia, Writer's cramp, Tre...	OMIM:312080
Branchioskeletogenital Syndrome	Abnormality of the vertebral spinous processes, Ureteral stenosis, Telecanthus, Thoracolumbar kyp...	ORPHA:1299
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Transaldolase Deficiency	Abnormality of the kidney, Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepato...	ORPHA:101028
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Palatal tremor, Urin...	ORPHA:363722
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Elevated circulati...	OMIM:615356
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Seizure, Neutropenia, Hydronephrosis, Th...	OMIM:598500
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Renal insufficiency, Psoriasiform dermatitis, Dysuria, Elevated...	ORPHA:49041
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Enlarged lacrimal glands, We...	ORPHA:79078
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Ataxia, Babinski sign, Abnormal pyramidal sig...	ORPHA:204
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Braddock-Carey Syndrome 1	Telecanthus, Multicystic kidney dysplasia, Hyperlordosis, Spastic diplegia, Downslanted palpebral...	OMIM:619980
Blepharochalasis, Superior	Blepharochalasis	OMIM:110000
Distal 22Q11.2 Microduplication Syndrome	Sacral dimple, Epicanthus, Palpebral edema, Unilateral renal agenesis, Cryptorchidism, Hydrocepha...	ORPHA:261337
Flynn-Aird Syndrome	Hyperkeratosis, Seizure, Ataxia, Kyphoscoliosis	OMIM:136300
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Seizure, Hyperkeratosis, Scoliosis, Ichthyos...	ORPHA:816
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Kyphoscoliosis, Cryptorchidism, Res...	ORPHA:1145
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of feet, Bilateral tonic-clonic seizure, Infantile spas...	ORPHA:544503
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Noonan Syndrome 8	Epicanthus, Polyhydramnios, Large for gestational age, Short neck, Cryptorchidism, Hyperkeratosis...	OMIM:615355
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Pontocerebellar Hypoplasia, Type 2E	Epicanthus, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizur...	OMIM:615851
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Seizure, Respir...	OMIM:614299
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Farber Disease	Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ...	ORPHA:333
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Ventriculomegaly	ORPHA:171703
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor	OMIM:203450
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyrami...	ORPHA:646
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast...	ORPHA:313772
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bla...	ORPHA:64
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Generalized-onset seizure, Polyhydramnios, Increased intervertebral space, Opisthotonus, T lympho...	ORPHA:508533
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Facial ede...	ORPHA:319213
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema	OMIM:608470
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Neuropathy, Congenital, With Arthrogryposis Multiplex	Spasticity, Babinski sign, Broad-based gait, Hyperlordosis	OMIM:162370
Saccharopinuria	Citrullinuria, Tremor, Spastic diplegia, Hypercystinemia, Gait ataxia, Cystinuria, Seizure, Hyper...	ORPHA:3124
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle dilatation,...	ORPHA:306669
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Seizure, Scoliosis, Short neck	ORPHA:2744
Autosomal Recessive Spastic Paraplegia Type 53	Clonus, Kyphosis, Upper limb hypertonia, Limb dystonia, Failure to thrive, Ventriculomegaly	ORPHA:319199
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Facial palsy, Reduced forced vital capacity, Respiratory insufficiency due ...	OMIM:255310
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Gait disturbance, Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:618129
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Infantile spasms, Microcytic anemia, Focal-onset seizure, Hydrocele testis, Tetrapar...	OMIM:618972
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine kinase concentra...	ORPHA:353327
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Parkinsonism-Dystonia 2, Infantile-Onset	Ptosis, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elev...	OMIM:618049
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Edema, Sparse eyebrow...	OMIM:604173
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Respiratory distress	OMIM:616341
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Progressive Pseudorheumatoid Arthropathy Of Childhood	Waddling gait, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentr...	ORPHA:1159
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Ataxia, Abscess, E...	OMIM:615816
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Neurogenic bladder, Seizure, Myoclonus, Scoliosis, Dyst...	OMIM:617669
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Urinary incontinence, Facial palsy, Spinal rigidity, Elevated circulating c...	OMIM:617114
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormal circulating lipid concentration, Ataxia, Abno...	ORPHA:381
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hydrocephalus, Splen...	OMIM:610333
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade...	ORPHA:100024
Neurodevelopmental Disorder With Spasticity And Poor Growth	Epicanthus, Generalized dystonia, Ataxia, Clonus, Infantile spasms, Synophrys, Babinski sign, Ves...	OMIM:618076
Arboleda-Tham Syndrome	Respiratory distress, Recurrent urinary tract infections, Dystonia, Lacrimal duct stenosis, Epica...	OMIM:616268
Juvenile Dermatomyositis	Calcinosis, Palpebral edema, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:93672
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Somatomammotropinoma	Cerebral palsy, Palpebral edema, Dysuria, Kyphosis, Thickened skin, Synophrys, Spinal canal steno...	ORPHA:314769
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Difficulty walking, Scoliosis	OMIM:617087
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infanc...	OMIM:610377
Microcephaly 26, Primary, Autosomal Dominant	Spastic tetraparesis, Recurrent pneumonia, Prominent eyelashes, Upslanted palpebral fissure, Seiz...	OMIM:619179
Pancreatic insufficiency, combined exocrine	Anasarca, Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Acanthosis nigricans, Decreased testicular size	ORPHA:3085
6P22 Microdeletion Syndrome	Epicanthus, Hydrocephalus, Hydronephrosis, Short neck	ORPHA:251046
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocytosis, Thic...	ORPHA:39041
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Multicystic kidney dysplasia, Epicanthus, Telecanthus, Facial palsy, Polyh...	ORPHA:261349
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Copper accumulation in liver, Myoclonic seizure, Anemia, Seizure, Aminoaciduria...	OMIM:614946
Thanatophoric Dysplasia	Abnormality of the kidney, Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Hydroc...	ORPHA:2655
Perching Syndrome	Respiratory distress, Scoliosis	OMIM:617055
Recombinant Chromosome 8 Syndrome	Infra-orbital crease, Cryptorchidism, Seizure, Hypertonia, Scoliosis, Hydronephrosis, Ventriculom...	OMIM:179613
Spinocerebellar Ataxia Type 13	Torticollis, Urinary incontinence, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bra...	ORPHA:98768
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gliosis, Myoclonus, Gait d...	OMIM:168601
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Respiratory paralysis, E...	OMIM:121300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Difficulty walking, Spi...	OMIM:609308
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Epicanthus, Palpebral edema, Telecanthus, Unilateral renal agenesis, Thicken...	OMIM:181270
Congenital Disorder Of Glycosylation, Type Ia	Generalized-onset seizure, Edema, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, Hypoalbuminemi...	OMIM:212065
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pleural lymphangiectasia, Pericardial lymphangiectasia, Epicanthus, Nonimmune hydrops fetalis, Ly...	OMIM:235510
Distal Deletion 10Q	Failure to thrive, Lumbar hyperlordosis, Ataxia, Clonus, Epicanthus, Functional abnormality of th...	ORPHA:96148
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hy...	OMIM:617435
Congenital Myopathy 10B, Mild Variant	Elevated circulating creatine kinase concentration, Hyperlordosis, Reduced forced vital capacity,...	OMIM:620249
Spinocerebellar Ataxia Type 36	Ptosis, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fascic...	ORPHA:276198
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity, Ptosis	OMIM:252011
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Seizure, Truncal ob...	OMIM:300957
Lymphatic Filariasis	Predominantly lower limb lymphedema, Abnormality of the kidney, Proteinuria, Lymphedema, Orchitis...	ORPHA:2035
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
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyr...	ORPHA:171695
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ...	OMIM:619725
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
D-Glyceric Aciduria	Neonatal respiratory distress, Bilateral tonic-clonic seizure, Spastic tetraplegia, Nonketotic hy...	OMIM:220120
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Al...	OMIM:620352
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Apnea, Febrile status epilepticus, Polyhydramnios, Tonic seizure, Spas...	OMIM:612949
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Polyhydramnios, Short neck, Absent eyelashes, Splenomegaly, Hydroceph...	OMIM:115150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Lumbar hyperlordosis, Urinary incontinence, K...	OMIM:616482
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Respiratory insufficiency, ...	OMIM:181405
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Seizure, Hyperker...	ORPHA:281090
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Jaundice, ...	OMIM:274150
Visceral Myopathy 2	Megacystis	OMIM:619350
Zaki Syndrome	Dilated fourth ventricle, Sacral dimple, Renal agenesis, Sparse eyebrow, Unsteady gait, Hydroneph...	OMIM:619648
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens...	ORPHA:86909
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s...	ORPHA:725
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Ptosis, Hypospadias, Epicanthus, Blepharophimosis, Kyphos...	ORPHA:96169
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Hooded eyelid, Seizure, Thoracic kyphosis, Spasticity	OMIM:619467
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Seizure, Hyperkeratosis, Scoliosis, Hypophosphatemia, Dandy-Walker mal...	ORPHA:2611
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babinski sign, Dysmetria, Clumsine...	ORPHA:88644
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Spastic tetraparesis, Increased urinary sulfite level, Ab...	OMIM:252150
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Cryptorchidism, Hemivertebrae, Hydrops...	ORPHA:99776
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ...	OMIM:253010
Hyperphosphatasia-Intellectual Disability Syndrome	Epicanthus, Ataxia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Short neck, Upslanted ...	ORPHA:247262
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Nephrotic syndro...	OMIM:609049
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly,...	ORPHA:77259
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of...	OMIM:208900
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Spontaneous neonatal pneumothorax, Gingival hyperkeratosis, Blepharochal...	OMIM:225410
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Wilson Disease	Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, ...	ORPHA:905
Three M Syndrome 1	Neonatal respiratory distress, Small for gestational age, Hypospadias, Hyperlordosis, Short neck,...	OMIM:273750
Neuronal Intranuclear Inclusion Disease	Ataxia, Urinary incontinence, Tremor, Rigidity, Seizure, Gait disturbance, Ventriculomegaly	OMIM:603472
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Epicanthus, Telecanthus, Thick eyebrow, Inability to walk, My...	OMIM:619383
Microcephaly-Capillary Malformation Syndrome	Ptosis, Small for gestational age, Infantile spasms, Spastic tetraparesis, Seizure, Myoclonus, Ve...	OMIM:614261
Crisponi/Cold-Induced Sweating Syndrome 2	Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Renal insufficiency, Failure to thrive in infancy, Hypospadias, Kyphoscoliosi...	OMIM:611209
Alexander Disease	Ataxia, Clonus, Facial palsy, Hyperlordosis, Aqueductal stenosis, Kyphosis, Short neck, Hydroceph...	ORPHA:58
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Abnormality of the urinary system	ORPHA:2204
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Tetanus	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated urinary norepi...	ORPHA:3299
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdomin...	OMIM:615980
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Ataxia, Bilateral tonic-clonic seizure, Increased level o...	OMIM:271980
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni...	ORPHA:508093
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p...	ORPHA:443811
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Reduced vital capacity, Scoliosis, Hyperlordosis	OMIM:617760
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Highly arched eyebrow, Short neck, Cryptorchidism, Seizure, Hypertonia, Shor...	ORPHA:2083
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Waddling gait, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abno...	ORPHA:99642
Oculoskeletodental Syndrome	Epicanthus, Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic kyphosis, Hypocalcemia, Scol...	ORPHA:557003
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Seizure, Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Elevated circulating C-reactive prote...	ORPHA:178320
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Choreoathetosis, Hypertonia, Hepatic steatosis, Hepatomegaly, Hyposp...	ORPHA:17
Suleiman-El-Hattab Syndrome	Epicanthus, Highly arched eyebrow, Cryptorchidism, Synophrys, Seizure, Periorbital fullness, Webb...	OMIM:618950
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait...	ORPHA:216873
Joubert Syndrome With Hepatic Defect	Apnea, Tremor, Nephropathy, Hepatomegaly, Multicystic kidney dysplasia, Ataxia, Portal hypertensi...	ORPHA:1454
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Lethal Congenital Contracture Syndrome 2	Akinesia, Polyhydramnios, Edema, Respiratory failure, Hydronephrosis	OMIM:607598
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebr...	OMIM:618321
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Erdheim-Chester Disease	Renal insufficiency, Ataxia, Dysuria, Retroperitoneal fibrosis, Dyspnea, Weight loss, Joint swell...	ORPHA:35687
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetali...	ORPHA:79282
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Seizure, Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Peho Syndrome	Epicanthus, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Seizure, Myoclonus	OMIM:260565
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Long eyelashes, Scoliosis, Abnormality of t...	ORPHA:48431
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Small for gestational age, Proteinuria, Edema, Micro...	ORPHA:97362
22Q11.2 Duplication Syndrome	Epicanthus, Urethral stenosis, Seizure, Aplasia/Hypoplasia of the thymus, Scoliosis, Displacement...	ORPHA:1727
Multiple Sulfatase Deficiency	Hepatomegaly, Ataxia, Periorbital edema, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodie...	OMIM:272200
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Telecanthus, Broad-based gait, Inability to walk, Respiratory insufficiency, Seizure, Myoclonus, ...	OMIM:616158
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Generalized-onset seizure, Ataxia, Elevated circulating creatine kinase con...	OMIM:620166
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Short neck	ORPHA:1832
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Sei...	ORPHA:541423
Muscular Hypertonia, Lethal	Respiratory distress, Hypertonia, Pneumonia	OMIM:254120
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat...	ORPHA:1414
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Failure to thrive, Highly arched eyebrow, Trichiasis, Epible...	OMIM:618460
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Tremor, Hand tre...	OMIM:277900
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Epicanthus, Ataxia, Hyperlordosis, Almond-shaped palpebral fissure, Seizure, Hypertonia, Gait dis...	OMIM:300986
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, W...	OMIM:264180
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia,...	ORPHA:37612
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis	OMIM:619462
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:610185
Trisomy 13	Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Abnormality of the ureter, Hydrops fetalis...	ORPHA:3378
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Weight los...	ORPHA:545
Pure Mitochondrial Myopathy	Waddling gait, Lumbar hyperlordosis, Recurrent myoglobinuria, Bilateral ptosis, Scoliosis, Loss o...	ORPHA:254854
Muscular Dystrophy, Duchenne Type	Waddling gait, Hypoventilation, Elevated circulating creatine kinase concentration, Hyperlordosis...	OMIM:310200
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ...	OMIM:616719
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Elevated circulating creatine kinase concentration, Hyperlordosis, Restrictive ventila...	OMIM:253700
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Elevated circulating creatine kin...	ORPHA:352447
Schwartz-Jampel Syndrome	Apnea, Elevated circulating creatine kinase concentration, Polyhydramnios, Short neck, Hypertonia...	ORPHA:800
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary...	OMIM:613490
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Cerebral palsy, Small for gestational age, Thick eyebrow, Highly arched eyebrow, Kyph...	OMIM:615834
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,...	OMIM:619724
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Polyhydramnios, Short neck, Facial palsy, Kyphosis, Inability to walk, Scol...	OMIM:301041
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias, Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilept...	OMIM:619272
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ...	ORPHA:329178
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Facial palsy, Hyperlordosis, Focal-onset seizure, Intercostal muscle weakness, I...	ORPHA:258
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Polyhydramnios, Kyphosis, Hydrocephalus, Increased nuchal translucency...	ORPHA:93274
Acquired Ichthyosis	Hyperkeratosis, Renal insufficiency, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Bardet-Biedl Syndrome 19	Renal insufficiency, Obesity, Renal hypoplasia, Hepatic steatosis, Hydronephrosis	OMIM:615996
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Cerebral palsy, Small for gestational age, Highly arched eyebrow, Kyphosis, Cryptorch...	ORPHA:352490
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema	OMIM:267450
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Elevated circ...	OMIM:615042
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Seizure, Vertebral segmentation defect, Scoliosis, Difficulty walking, Long palpe...	ORPHA:531151
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Palpebral edema, Generalized myoclonic-...	OMIM:614756
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni...	ORPHA:596
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali...	ORPHA:254864
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Neonatal respiratory distress, Hyperlordosis, Increased nuchal translucency, Coronal cleft verteb...	OMIM:618870
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxia, Seizure, Abnormality o...	ORPHA:500180
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Hypospadias, Ab...	ORPHA:261318
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Sp...	ORPHA:349
Stuve-Wiedemann Syndrome 2	Respiratory distress, Thrombocytopenia, Pulmonary arterial hypertension, Scoliosis	OMIM:619751
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Hypopl...	OMIM:230500
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoac...	OMIM:231680
Fibrosis Of Extraocular Muscles, Congenital, 3C	Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenital fibrosis of extraocular ...	OMIM:609384
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:616974
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Cryptorchidism, Kyphosis, Anky...	ORPHA:568
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Apnea, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure...	OMIM:614498
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Spastic/hyperactive bladder, Unsteady gait...	ORPHA:137898
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Diaphanospondylodysostosis	Respiratory distress, Short neck, Multiple renal cysts, Absent or minimally ossified vertebral bo...	ORPHA:66637
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Generalized-onset seizure, Nonimmune hydrops fetalis, Decreased body weight, Vesicoureteral reflu...	OMIM:618265
Myopathy, Centronuclear, 1	Ptosis, Facial palsy, Mildly elevated creatine kinase, Hyperlordosis	OMIM:160150
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Seizure, Myoclonus, Failure ...	OMIM:300673
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral endplates, Coronal cleft vertebrae, T...	OMIM:618363
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Telecanthus, Palpebral edema, Abnormali...	ORPHA:2036
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Edema, Congenital hypoplastic anemia, Cachexia, Spleno...	ORPHA:77297
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus, Increased urinary O-linked sialopeptides	OMIM:609241
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Nonimmune hydrops fetalis, Apnea, Central hypoventilation, Seizure, My...	OMIM:620167
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Periodic hypokal...	OMIM:259730
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Facial palsy, Abnormal pattern of respiration, Tachypnea, Slurred sp...	ORPHA:31826
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Ataxia, Kyphosis, Synophrys, Seizure, Gait disturbance, Prominent supraorbital ridges, Scoliosis	ORPHA:85317
Alveolar Echinococcosis	Liver abscess, Cholangitis, Pedal edema, Renal cyst, Cough, Abnormal vertebral morphology, Ataxia...	ORPHA:284
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Respiratory insufficiency, Choreoatheto...	ORPHA:702
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ...	ORPHA:289266
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Periorbital fullness, Seizure, Prolonged neonatal jaundice, Downslanted...	OMIM:618512
Bazex Syndrome	Parakeratosis, Edema, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, Anemia	ORPHA:166113
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Paraplegia, ...	ORPHA:927
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hydrops fetalis, Seizure, Hy...	ORPHA:85212
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Facial palsy, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyp...	OMIM:254090
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short neck, Hydrocephalus, Urethral stenosis, Hypertonia, Sc...	ORPHA:261290
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uns...	OMIM:616795
Moebius Syndrome	Respiratory distress, Epicanthus, Short neck, Poor coordination, Clumsiness, Congenital fibrosis ...	OMIM:157900
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
D-Glyceric Aciduria	Increased circulating free fatty acid level, Chorea, Hyperglycinuria, Nonketotic hyperglycinemia,...	ORPHA:941
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Facial hypotonia, Elevated circulating creatine ki...	ORPHA:365
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Gm1-Gangliosidosis, Type Iii	Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Lathosterolosis	Abnormal thoracic spine morphology, Hepatomegaly, Failure to thrive, Hypoplasia of penis, Epicant...	ORPHA:46059
Glutathionuria	Urinary incontinence, Tremor, Asthma, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Narp Syndrome	Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms, Ventriculomegaly	ORPHA:644
Cat-Eye Syndrome	Downslanted palpebral fissures, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia...	ORPHA:195
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransf...	OMIM:615595
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circ...	OMIM:255800
Listeriosis	Back pain, Respiratory distress, Liver abscess, Tremor, Abnormal cellular immune system morpholog...	ORPHA:533
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasti...	OMIM:618201
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Cardiofaciocutaneous Syndrome	Epicanthus, Failure to thrive in infancy, Lymphedema, Short neck, Cryptorchidism, Hydrocephalus, ...	ORPHA:1340
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski si...	OMIM:615157
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Polyhydramnios, Hydrocephalus, Urethral atresia, Abnormality of the vertebral colu...	OMIM:314390
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Hypospadias, Sparse eyebrow, Kyphosis, Inability to walk, Recurrent pneumonia, Seizur...	ORPHA:464738
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Elevated circulating phytanic acid concentration, Hemiparesi...	OMIM:614307
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Hypospadias, Kyphosis, Recurrent pneumonia, Seizure, Scoliosis, Pulmonary arterial hy...	OMIM:616449
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Facial hypotonia, Seizure, L...	OMIM:216550
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Failure to thrive in i...	OMIM:613385
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d...	ORPHA:157846
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight l...	OMIM:209950
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Increased urinary glycerol, In...	ORPHA:348
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Epicanthus, Polyhydramnios, Dyspnea, Hemivertebrae, Abnormal form of the ve...	ORPHA:2759
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Apnea, Episodic tachypnea,...	ORPHA:79264
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial n...	ORPHA:340
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Respiratory ...	OMIM:256050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Epicanthus, Seizure, Scoliosis	OMIM:300434
Nipah Virus Disease	Respiratory distress, Tremor, Seizure, Myoclonus, Cough	ORPHA:99825
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Seizure, Scoliosis, Downslanted palpebral fissures	ORPHA:276630
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Generalized myoclonic seizure, Splenomegaly, Spastic tetraplegia, Hypoplast...	OMIM:230600
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Respiratory distress, Epileptic spasm, Telecanthus, Bilateral tonic-clonic seizur...	ORPHA:314655
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Seizure, Abnormal urinary odor...	ORPHA:412217
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis	OMIM:252605
Congenital Anomalies Of Kidney And Urinary Tract 2	Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Sézary Syndrome	Hepatomegaly, Edema, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal ly...	ORPHA:3162
Igg4-Related Aortitis	Low back pain, Elevated circulating C-reactive protein concentration, Asthma, Hypereosinophilia, ...	ORPHA:449400
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Kyphosis, Seizure, Nephrotic syndrome, Respirator...	ORPHA:79327
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Par...	ORPHA:398124
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Elevated circulating creatine kinase concentration, Spastic te...	OMIM:619055
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema	ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Epicanthus, Small for gestational age, Hypospadias, Polyhydramnios, Edema, ...	OMIM:607143
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive, Tubulointerstitia...	OMIM:263000
Pyruvate Carboxylase Deficiency	Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, Dehydration, Basal ganglia gliosi...	ORPHA:3008
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Spastic diplegia, Seizure, Downslanted palpebral fissures, Hydron...	OMIM:300048
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Reduced vital capacity, Parkinsonism, Urinary incontinence, Tremor, Facial diplegia, F...	ORPHA:329478
48,Xxyy Syndrome	Hypoplasia of penis, Epicanthus, Ataxia, Apnea, Tremor, Cryptorchidism, Asthma, Obesity, Upslante...	ORPHA:10
Chromosome 10Q26 Deletion Syndrome	Epicanthus, Lumbar hyperlordosis, Small for gestational age, Broad-based gait, Short neck, Crypto...	OMIM:609625
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Spinocerebellar Ataxia, Autosomal Recessive 13	Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, ...	OMIM:614831
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite...	OMIM:252160
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede...	OMIM:620014
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Aspiration pneumonia, Dyston...	OMIM:619167
Distal Duplication 6P	Sacral dimple, Short neck, Abnormal eyelash morphology, Renal hypoplasia, Abnormality of the urin...	ORPHA:1745
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Chromosome 2P16.1-P15 Deletion Syndrome	Epicanthus, Telecanthus, Kyphoscoliosis, Cryptorchidism, Micropenis, Hydronephrosis, Downslanted ...	OMIM:612513
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Recurrent urinary tract infections, Pure ...	OMIM:613179
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hyperto...	OMIM:614898
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga...	OMIM:618090
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Oliguria, We...	ORPHA:514
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Stridor, Seizure, Myoc...	OMIM:616973
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Absence seizure with eyelid myoclonia, Ataxia, Megaloblastic anemia, ...	OMIM:613839
Bacterial Toxic-Shock Syndrome	Respiratory distress, Renal insufficiency, Recurrent urinary tract infections, Sinusitis, Abscess...	ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure, Kyphosis, Spastic tetraplegia, Dystonia, Failure to thrive	OMIM:618237
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr...	ORPHA:264675
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Epistaxis, Pancreatic cysts, Thrombocytopenia, Abnormal sacru...	ORPHA:464329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,...	OMIM:618495
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Thin skin, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Oligohydra...	ORPHA:261304
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Palpebral edema, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Nonprogressive cerebe...	ORPHA:314647
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Kypho...	ORPHA:97349
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Epicanthus, Ureteral hypoplasia, Polyhydramnios, Large for...	OMIM:614080
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Recurrent ...	OMIM:615637
Pyruvate Dehydrogenase Deficiency	Epicanthus, Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoat...	ORPHA:765
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis	ORPHA:99014
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Lymphedema, Unilateral renal agenesis, Thrombocytope...	ORPHA:487796
Glycogen Storage Disease Iv	Failure to thrive, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegal...	OMIM:232500
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Pericardial effusio...	ORPHA:781
Bethlem Myopathy	Waddling gait, Hypoventilation, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Elevat...	ORPHA:610
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Seizure, Dystonia, ...	OMIM:617664
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Upslanted palpebral fissure, Seizure, Vesicoureteral reflux, Failure to thrive,...	OMIM:613735
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Failure to thrive, Spontaneous, recurrent epistaxis, Hyp...	ORPHA:2929
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Upslanted palpebral fissure, Vertebral seg...	ORPHA:1797
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Polyhydramnios, Short neck	OMIM:618393
Vacterl/Vater Association	Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicystic kidney dysplasia, Hypos...	ORPHA:887
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Recurrent urinary tract infections, Intermittent thrombocytopeni...	OMIM:612541
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Tracheomalacia, Cry...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Seizure, Abdominal obesity, Micropeni...	OMIM:300354
Microcephaly, Amish Type	Hepatomegaly, Failure to thrive, Myoclonus, Limb hypertonia	OMIM:607196
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Kyphosis, Cryptorchidism, Seizure, Micropenis, Downslanted palpebral fissures, Decrea...	OMIM:615433
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance, Decreased testicular size, Ptosis	ORPHA:1875
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Upslanted p...	OMIM:226980
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Facial hypotonia, Tremor, Cryptorchidism, Sparse eyebrow, Epiblepharo...	OMIM:617557
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Hypospadias, Involuntary movements, Kyphoscoliosis, Ectopic kidney, Sparse eye...	ORPHA:3063
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Tremor, Synophrys, Prominent protruding coccyx, Spastic diplegia, Obesity, Seizure, L...	ORPHA:480907
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hypertyrosinemia, 4-hydro...	OMIM:617156
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
Stiff-Person Syndrome	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Myoclonic spasms, Fre...	OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency	Ptosis, Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Babinski sign, Limb ...	OMIM:608643
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Chorea, Hyperammonemia, Opistho...	OMIM:616672
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Chorea, Low plasma citrulline, Gait ataxia, Hypertonia, Hyperventilation, Hepatomegaly, At...	ORPHA:255210
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Upper airway obstruction, Hepatosplenomegaly, Platyspondyly, Squared-o...	ORPHA:93352
Distal Triplication 15Q	Telecanthus, Abnormality of the kidney, Large for gestational age, Kyphosis, Hydrocephalus, Dilat...	ORPHA:314588
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim...	ORPHA:101
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu...	OMIM:232300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Hypospadias, Simple febrile seizure, Polyhydramnios, Unilateral renal ...	ORPHA:464311
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Underdeveloped supraorbital ridges, Ptosis, Scoliosis, Hyperlordosis	ORPHA:2511
Koolen-De Vries Syndrome Due To A Point Mutation	Generalized-onset seizure, Fetal pyelectasis, Vesicoureteral reflux, Renal duplication, Hypospadi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Generalized-onset seizure, Fetal pyelectasis, Vesicoureteral reflux, Renal duplication, Hypospadi...	ORPHA:363958
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Conjugated hyperbilirubinemia, Splenomeg...	OMIM:214900
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelashes, Scoliosis, D...	OMIM:619451
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the pancreas, Hydr...	ORPHA:1926
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Respiratory insufficiency, Facial diplegia, Left vent...	ORPHA:169186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Tremor, Synophrys, Hypertrophy of the urinary bladder, Recurrent aspiration pneumonia...	ORPHA:280633
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Epistaxis, Elevat...	ORPHA:900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Pericardial effusion, Abnormal renal tubular resorption, Hypercal...	ORPHA:73224
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Bilateral tonic-clonic seizure, Hypospadias, Kyphoscoliosis, Renal agenesis, Kyphosis...	OMIM:301040
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitia...	ORPHA:37042
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Ob...	ORPHA:3077
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Waddling gait, Elevated circulating aspartate aminotransferase con...	OMIM:300280
Hypochondroplasia	Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:429
Congenital Disorder Of Glycosylation, Type If	Ataxia, Renal cortical cysts, Seizure, Hyperkeratosis, Hypertonia, Failure to thrive, Ventriculom...	OMIM:609180
Leptospirosis	Respiratory distress, Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy,...	ORPHA:509
Dehydrated Hereditary Stomatocytosis	Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu...	ORPHA:3202
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Epicanthus, Short neck, Heparan sulfa...	OMIM:253220
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Ptosis, Waddling gait, Ataxia, Sudden episodic apnea, Kyphoscolio...	ORPHA:98914
Trisomy X	Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Tremor, Upslanted palpebral f...	ORPHA:3375
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Ptosis, Waddling gait, Ataxia, Sudden episodic apnea, Kyphoscolio...	ORPHA:590
Orofaciodigital Syndrome Xv	Hydronephrosis, Ventriculomegaly	OMIM:617127
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Tremor, Chorea, Abnormal pyramidal sign, Dehydration, Choreoathetosi...	ORPHA:2131
Trisomy 1Q	Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Hydr...	ORPHA:261344
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Multicystic kidney dysplasia, Hypospadias, Epicanthus, Cryptorch...	ORPHA:912
Kury-Isidor Syndrome	Sacral dimple, Short neck, Seizure, Scoliosis, Downslanted palpebral fissures, Hydronephrosis, Pt...	OMIM:619762
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Inability t...	ORPHA:168491
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata...	OMIM:617831
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Waddling gait, Lumbar hyperlordosis	ORPHA:156728
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Respiratory insuffic...	ORPHA:108
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613723
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Hydrops fetalis, Large for gestational age	ORPHA:45452
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Apnea, Highly arched eyebrow, Tremor, Hydrocephalus, Seizure, Gait d...	ORPHA:220497
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperglutamatemia, Hyperammonemia, Seizure, Failure to thrive	OMIM:237310
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai...	ORPHA:488613
Oromandibular Dystonia	Respiratory distress, Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic...	ORPHA:93958
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Epicanthus, Hypospadias, Neonat...	OMIM:214100
8P23.1 Duplication Syndrome	Hydronephrosis, Highly arched eyebrow	ORPHA:251076
Kinsship Syndrome	Sacral dimple, Ventriculomegaly, Bilateral tonic-clonic seizure, Spastic tetraparesis, Short neck...	OMIM:619297
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Obesity, Acanthosis nigrica...	ORPHA:15
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Small for gestational age, P...	OMIM:610443
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Pericardial effusion, Babinski sign, Gait ataxia, Seizure, Elevated urine acetoacetic aci...	OMIM:620089
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Obesity...	ORPHA:261222
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ...	ORPHA:3226
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Cryptorchidism, Kyphosis, Abnormality of the palpebral fissur...	ORPHA:178148
Bethlem Myopathy 2	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:616471
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Myoclonic spas...	ORPHA:36913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Increased serum pyruvate, Gliosis, Inspiratory stridor, Limb ...	OMIM:604377
Scorpion Envenomation	Hemifacial spasm, Acute pancreatitis, Ataxia, Elevated circulating aspartate aminotransferase con...	ORPHA:466677
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Bilateral tonic-clonic seizure, Kyphoscoliosis, Joint swell...	ORPHA:2976
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Elevated circulating creatine kinase concentration, Follicular hyperkeratosis, Kyphoscoliosis	ORPHA:300179
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Status epilep...	OMIM:619046
Leigh Syndrome	Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Neutropenia, Ataxia, Renal tubular dy...	ORPHA:506
Lamellar Ichthyosis	Renal insufficiency, Dehydration, Hyperkeratosis, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, ...	ORPHA:313
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Hyperparakeratosis, Hyperkeratosis, Kerat...	ORPHA:182
Thoracomelic Dysplasia	Hyperlordosis, Gait disturbance, Short neck	ORPHA:1803
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, Abnormal mesentery morphology, Functional abno...	ORPHA:2953
Cardiofaciocutaneous Syndrome 3	Short neck, Seizure, Hyperkeratosis, Scoliosis, Webbed neck, Failure to thrive	OMIM:615279
Microtriplication 11Q24.1	Speech apraxia, Short neck, Synophrys, Hyperlipidemia, Obesity, Upslanted palpebral fissure, Seiz...	ORPHA:289522
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Spastic tetraplegia, Respiratory insufficiency, Seizure, Myoclonus, Cerebral edema	OMIM:614462
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Seizure	ORPHA:212
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Spinal rigidity, Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness,...	OMIM:617066
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Hyperlordosis, Synophrys, Abnormality of the ureter, Palmoplantar hyperker...	ORPHA:3253
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Thoracic scoliosis, Waddling gait, Nonimmune hydrops fetalis,...	OMIM:620369
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Spinal rigidity, Overweight, Cryptorchidism, Respiratory insufficiency due to muscle weakness, Fo...	ORPHA:486815
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Restrictive ventilatory defe...	OMIM:618484
Sea-Blue Histiocytosis	Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit...	ORPHA:158029
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Joint swelling, Lipogranulomatosis, Failur...	OMIM:228000
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Kyphosis, Hydrocephalus, Splenomega...	OMIM:309900
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Dystonia, Ataxia, Bone-marrow foam cells, Polyhydram...	OMIM:607625
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Respiratory...	ORPHA:537
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Kyphosis, Unsteady gait, Obesity, Scoliosis, Loss of ambulation	OMIM:618124
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Distichiasis, Scoliosis	ORPHA:2598
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypospadias, Highly ar...	ORPHA:2322
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Epicanthus...	ORPHA:175
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Se...	OMIM:617913
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Ataxia, Portal hypertension, Unilateral re...	OMIM:216360
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oli...	OMIM:100100
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Sparse eyelashes, Trem...	OMIM:617988
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Emanuel Syndrome	Sacral dimple, Ventriculomegaly, Torticollis, Recurrent urinary tract infections, Unilateral rena...	OMIM:609029
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Crackles, Cough, A...	OMIM:610978
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, R...	OMIM:613280
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Seizure, Generalized non-motor (absence) seizure, Thickened skin	OMIM:247100
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Mucopolysaccharidosis, Type X	Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine, Platyspondyly, Posterior sca...	OMIM:619698
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Fetal ascites, Synophrys, Hypocalcemia, Aspiration, Micropenis, Pelvic kidney, Hepatic ste...	OMIM:619503
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Waddling gait, Lumbar hyperlordosis	OMIM:165800
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Short neck, Renal hypoplasia/...	ORPHA:3015
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s...	ORPHA:457240
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior w...	OMIM:253200
3C Syndrome	Ventriculomegaly, Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hydrocephalus, Hemivert...	ORPHA:7
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Hydrocephalus, Chronic kidney disease, Obesity, Cholestasis, Hepatic ...	OMIM:615630
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Myoclonus, Podocyte foo...	OMIM:619609
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Dyspnea, Lymphadenopat...	ORPHA:93552
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Scoliosis, Hyperlordosis	ORPHA:1387
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Tetrasomy 15Q26	Kyphoscoliosis, Hydrocephalus, Horseshoe kidney, Downslanted palpebral fissures, Hydronephrosis, ...	OMIM:614846
Desbuquois Dysplasia 1	Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Obesity, Platy...	OMIM:251450
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular...	OMIM:606003
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Periorbital edema, Abnormal lacrimal ...	ORPHA:141083
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Lymphatic Malformation 6	Genital edema, Epicanthus, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomega...	OMIM:616843
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Epicanthus, Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Synoph...	ORPHA:85293
Image Syndrome	Cryptorchidism, Hypospadias, Hydronephrosis	ORPHA:85173
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Incoordination, Bilateral tonic-clonic seizure, Tremor, Focal-...	ORPHA:36387
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,...	ORPHA:582
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Gliosis, Facial palsy, Tonic seiz...	OMIM:615873
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Seizure, Respiratory failure, Interstitial pneumonitis, Hy...	ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Frequent falls, Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:611588
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Edema, Leukocytosis, Tachypnea, Dehydration, Weight loss, Hypera...	ORPHA:134
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Small for gestational age, Renal agenesis, Hypercalcemia, Splenomegaly,...	OMIM:618440
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur...	OMIM:617810
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydrocephalus, Hemivertebrae, Downslanted palpebral fissures, Hydronephrosis, Dandy-...	OMIM:220210
Spastic Paraplegia 89, Autosomal Recessive	Ataxia, Spastic paraplegia, Functional abnormality of the bladder, Seizure, Febrile seizure (with...	OMIM:620379
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Moynahan Syndrome	Hyperkeratosis, Seizure, Cachexia	ORPHA:2574
Carpenter Syndrome 1	Sacral dimple, Hydroureter, Epicanthus, Telecanthus, Short neck, Cryptorchidism, Obesity, Polyspl...	OMIM:201000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Scoliosis, Apraxia	OMIM:620141
Hemifacial Atrophy, Progressive	Ataxia, Kyphosis, Horner syndrome, Seizure, Blepharophimosis	OMIM:141300
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Epicanthus, Dysuria, Babinski sign, Slurred speech, Spastic dysarthria, Ankle clo...	ORPHA:101000
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79332
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration...	OMIM:170100
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Hypoplasia of penis, Myoclonus, Abnormal pattern of respiration	ORPHA:168593
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Failure to thrive, Myoclonus, Decreased body weight	OMIM:619060
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Gliosis, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:604218
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Lumbar hyperlordosis, Clonus, Elevated circulating creatine kinase conc...	ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Ataxia, Kyphosis, Synophrys, Unsteady gait, Seizure, Scoliosis	OMIM:300861
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Tremor, Sparse eyebrow, Hemivertebrae, Seizure, Scoliosis, Underdeveloped supra...	ORPHA:370079
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Lymphadenopathy, W...	ORPHA:142
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the ver...	ORPHA:750
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Thick eyebrow, Bilateral tonic-clonic seizure, Facial-lingual fasci...	OMIM:617281
Leopard Syndrome 3	Epidermal hyperkeratosis, Short neck, Hyperkeratosis, Seizure, Webbed neck, Palpebral thickening,...	OMIM:613707
Brain Dopamine-Serotonin Vesicular Transport Disease	Ptosis, Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor...	ORPHA:352649
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Ataxia, Tremor, Seizure, Aplasia/Hypoplasia of ...	ORPHA:100
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Allergic rhinitis, Sparse eyebrow, Angioedema, Asthma, ...	OMIM:256500
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Respiratory failure, Fas...	OMIM:620327
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Cocaine Intoxication	Respiratory distress, Bilateral tonic-clonic seizure, Involuntary movements, Proteinuria, Glomeru...	ORPHA:90068
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios	OMIM:249210
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Hepatosplenomega...	ORPHA:309155
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Hydroc...	ORPHA:1860
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Polyhydramnios, Spinal rigidity, Kyphosis, Synophrys, Bilatera...	OMIM:620351
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Broad eyebrow, Lumbar hyperlordosis, Bilateral tonic-clonic seizure,...	ORPHA:457359
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Martsolf Syndrome 1	Enlarged sylvian cistern, Thoracic scoliosis, Lumbar hyperlordosis, Epicanthus, Clonus, Cryptorch...	OMIM:212720
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Pulmonary edema, Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Abnormal pyramidal s...	OMIM:105210
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Seizure, Leukopenia, Lymphopenia,...	OMIM:620210
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer...	OMIM:620306
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoat...	ORPHA:391428
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Obesity, Seizure, Myoclonus, Scoliosis, Gait imbalance	ORPHA:98794
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ...	ORPHA:163596
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:64753
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Hypospadias, Unilateral renal agenesis, Kyphosis, Cryptorchidism, Rena...	ORPHA:464306
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si...	ORPHA:352582
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,...	ORPHA:2785
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile...	ORPHA:477673
Tarp Syndrome	Horseshoe kidney, Seizure, Athetosis, Hepatic failure, Underdeveloped supraorbital ridges, Failur...	OMIM:311900
8P Inverted Duplication/Deletion Syndrome	Short neck, Cryptorchidism, Synophrys, Spastic tetraplegia, Seizure, Hypertonia, Abnormality of t...	ORPHA:96092
Odontochondrodysplasia 1	Respiratory distress, Biconvex vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Scoliosi...	OMIM:184260
Angelman Syndrome	Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Obesity, Seizure, Status e...	ORPHA:72
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Stridor, Spondylolysis, Scoliosis, Upper...	ORPHA:763
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Central hypoventilation, Tip-toe gait, Fr...	ORPHA:171881
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrop...	OMIM:169400
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Bilateral cryptorch...	OMIM:300219
Dubowitz Syndrome	Sacral dimple, Epicanthus, Hypospadias, Telecanthus, Abnormality of neutrophils, Blepharophimosis...	ORPHA:235
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Lymphedema, Splenomegaly, Hepatitis, Hy...	ORPHA:584
Harlequin Ichthyosis	Dehydration, Respiratory insufficiency, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ic...	ORPHA:457
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Spinocerebellar Ataxia 34	Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok...	OMIM:133190
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Increased nuchal translucency, Seizure, Vertebral segmentation defect, Scoliosis,...	ORPHA:453499
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis	ORPHA:1548
Optic Atrophy 11	Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Facial...	OMIM:617302
Schaaf-Yang Syndrome	Thick eyebrow, Failure to thrive in infancy, Kyphosis, Cryptorchidism, Inability to walk, Obesity...	OMIM:615547
Colchicine Poisoning	Respiratory distress, Hyponatremia, Renal insufficiency, Leukocytosis, Oliguria, Dehydration, Car...	ORPHA:31824
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Periorbital fullness, Ataxia, Hyperlordosis, Unilateral renal hypoplasia, Seizure, Sc...	OMIM:619950
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ...	ORPHA:35173
Mcdonough Syndrome	Cachexia, Kyphosis, Synophrys, Cryptorchidism, Prominent supraorbital ridges, Scoliosis, Short pa...	ORPHA:2471
Shashi-Pena Syndrome	Ptosis, Epicanthus, Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Synophrys, Mild f...	OMIM:617190
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Ptosis, Epicanthus, Kyphoscoliosis, Recurrent pneumonia, Respiratory insufficiency, Bladder diver...	OMIM:225400
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Seizure, Myoclonus, Dystonia	ORPHA:163921
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Facial palsy...	ORPHA:98915
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microcytic anemia, Hyperkeratosis, Ichthyosis, Spasticity, Failure...	OMIM:612379
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Epicanthus, Lumbar hyperlordosis, Ataxia, Abnormal location of the eyebrow, Almond...	ORPHA:522077
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Bone-marrow foam cells, Fetal asc...	OMIM:257220
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Facial palsy, Hyperlordosis, Downslanted palpebral fissures, Ptosis	ORPHA:3068
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Infantile spasm...	ORPHA:79329
Srd5A3-Cdg	Elevated hepatic transaminase, Ataxia, Microcytic anemia, Kyphosis, Abnormal sacrum morphology, S...	ORPHA:324737
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa...	OMIM:261640
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Dyspnea, Tach...	OMIM:239200
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Thickened skin, Dermata...	OMIM:607015
Cog8-Cdg	Elevated hepatic transaminase, Ataxia, Seizure, Myoclonus, Failure to thrive, Ventriculomegaly	ORPHA:95428
Multiple Osteochondromas	Neuropathic spinal arthropathy, Pneumothorax, Urinary retention, Hemothorax	ORPHA:321
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Proteinuria, Focal-onset...	ORPHA:550
Joubert Syndrome 1	Central apnea, Enlarged fossa interpeduncularis, Hemifacial spasm, Epicanthus, Ataxia, Episodic t...	OMIM:213300
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Abscess, Abnorm...	ORPHA:228123
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe...	OMIM:617796
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Stage 5 chronic kidney disease, Thoracic kyphosis, Myoclonus...	ORPHA:2752
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Lymphedema, Dyspne...	ORPHA:324
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Edema, Tremor, Gait ataxia, Abnormality of th...	ORPHA:254892
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Tetraplegia/tetraparesis, Rigidity, Sparse eyebrow, Unsteady gait, Paraplegia, Seizure, Generaliz...	ORPHA:2269
Webb-Dattani Syndrome	Neurogenic bladder, Bilateral tonic-clonic seizure, Cryptorchidism, Obesity, Hyposthenuria, Vesic...	OMIM:615926
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co...	OMIM:618398
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis	OMIM:617821
Serotonin Syndrome	Clonus, Tremor, Rigidity, Tachypnea, Seizure, Hypertonia, Myoclonus, Hepatic failure, Acute kidne...	ORPHA:43116
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clon...	ORPHA:206436
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Cryptorchidism, Obesity, Narrow palpebral fissure, Scoliosis, ...	OMIM:618653
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Apnea, Aspiration pneumonia, Vesicoureteral reflux, Hypoventilation, Cryptorchidism, Seizure, Myo...	ORPHA:438213
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Renal insufficienc...	ORPHA:713
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Synophrys, Seizure, Long eyelashes, Scoliosis, Ventriculomegaly, Pt...	ORPHA:238750
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Focal tonic seizure, Failure to thrive, H...	OMIM:619218
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykine...	ORPHA:70594
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick ey...	ORPHA:2616
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu...	OMIM:120330
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, ...	ORPHA:358
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro...	ORPHA:3260
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Seizure, Scoliosis, Butterfly ve...	ORPHA:313892
Intellectual Disability, Buenos-Aires Type	Spastic gait, Blepharophimosis, Cuboid-shaped thoracolumbar vertebral bodies, Downslanted palpebr...	ORPHA:3079
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Ataxia, Apnea	OMIM:617767
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Polyhydramnios, Respiratory insufficiency due to muscle weakness, K...	OMIM:618291
Scrub Typhus	Renal insufficiency, Tremor, Splenomegaly, Dyspnea, Lymphadenopathy, Seizure, Restrictive ventila...	ORPHA:83317
Erythrokeratodermia Variabilis	Hyperkeratosis, Abnormal testis morphology, Patchy palmoplantar hyperkeratosis, Weight loss	ORPHA:317
Hall-Riggs Syndrome	Epicanthus, Kyphosis, Irregular vertebral endplates, Platyspondyly, Seizure, Scoliosis, Failure t...	OMIM:234250
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Prominent supraorbital ridges, Scoliosis	OMIM:619719
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Restrictive ventilatory defect, Renal amyloidosis...	ORPHA:575
Jansen-De Vries Syndrome	Broad-based gait, Hyperlordosis	OMIM:617450
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Epicanthus, Bilateral tonic-clonic seizure, Elevated circulating creatine k...	OMIM:618733
Chilblain Lupus	Hyperkeratosis, Asthma, Chronic myelomonocytic leukemia	ORPHA:90280
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Ectropion, Polyhydramnios, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Pelvis-Shoulder Dysplasia	Waddling gait, Lumbar hyperlordosis, Hydrocephalus, Prominent protruding coccyx, Abnormal form of...	ORPHA:2839
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive	OMIM:618234
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy...	OMIM:183900
Biotinidase Deficiency	Respiratory distress, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Apnea, Focal moto...	ORPHA:79241
Developmental And Epileptic Encephalopathy 2	Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo...	OMIM:300672
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:613157
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal...	OMIM:615122
East Syndrome	Generalized-onset seizure, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk...	ORPHA:199343
Pyknoachondrogenesis	Palpebral edema, Poorly ossified vertebrae, Unossified sacrum, Webbed neck, Muscular edema	ORPHA:3003
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Epicanthus, Multifocal seizures, Hyperlordosis, Synophrys, Obesity, Hepatosplenomeg...	OMIM:301066
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Seizure, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Hypochondroplasia	Acanthosis nigricans, Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
12Q14 Microdeletion Syndrome	Ectopic kidney, Tremor, Abnormality of the spleen, Synophrys, Renal hypoplasia, Horseshoe kidney,...	ORPHA:94063
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ...	OMIM:611881
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid thoracolumbar ve...	OMIM:252900
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight loss, Bone...	ORPHA:391
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Elevated circulating creatine kinase concentration,...	OMIM:615084
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Abnormal circulating fatty-acid concentratio...	ORPHA:139396
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Sialuria	Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, Epicanthus, Upper ai...	ORPHA:3166
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Generalized-onset seizure, Apnea, Edema, Rigidity, Kyphosis, Babins...	OMIM:617527
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Short neck, Vertebral segmentation def...	ORPHA:373
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis	OMIM:212360
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Myopathy, Scapulohumeroperoneal	Facial palsy, Scoliosis, Hyperlordosis	OMIM:616852
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Bilateral tonic-clonic seizure, Involuntary movements, Cryptorchidism, Unsteady gait,...	OMIM:617798
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Upslanted palpebral fissure, Sco...	ORPHA:1133
Arthrogryposis, Distal, Type 5	Epicanthus, Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory def...	OMIM:108145
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Hepatocellular carcinoma, Microvesicular hepatic ste...	OMIM:256810
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign, Spinal canal ste...	ORPHA:93476
Three M Syndrome 3	Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ...	OMIM:614205
Rothmund-Thomson Syndrome, Type 1	Absent eyelashes, Hyperkeratosis, Absent eyebrow	OMIM:618625
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Frequent falls, Craniofac...	OMIM:620011
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Emphysema, Dyspnea, Bronch...	OMIM:612387
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Abnormal eyelid morphology, Tremor, Splenomegaly, Ja...	ORPHA:525731
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, ...	OMIM:617011
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomega...	OMIM:608885
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Epicanthus, Polyhydramnios, Kyphoscoliosis, Atlantoaxial instability, Bladder dive...	OMIM:614557
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tremor, Inability to walk, Limb tremor, Seizure, Facial diplegia, Restrictive ventilatory defect,...	OMIM:218000
Sialuria	Hepatomegaly, Epicanthus, Splenomegaly, Synophrys, Poor fine motor coordination, Seizure, Periorb...	OMIM:269921
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Xerostomia, L...	ORPHA:809
Rhizomelic Dysplasia, Patterson-Lowry Type	Epicanthus, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Seizure, Hypoplastic spleen	ORPHA:89844
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct...	OMIM:607822
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Epicanthus, Neonatal respiratory distress, Lacrimal duct stenosis, Cryptorchidism, Seizure, Dysto...	ORPHA:457193
Legionnaires Disease	Hyponatremia, Renal insufficiency, Ataxia, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Respir...	ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Rett Syndrome	Dystonia, Apnea, Intermittent hyperventilation, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Se...	OMIM:312750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Refsum Disease	Renal insufficiency, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Respi...	ORPHA:773
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Classical Ehlers-Danlos Syndrome	Epicanthus, Dermatochalasis, Bladder diverticulum, Joint swelling, Blepharochalasis, Scoliosis	ORPHA:287
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Hyperkeratosis, ...	OMIM:602540
Stiff Person Spectrum Disorder	Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Falls, Difficulty walking	ORPHA:3198
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Periorbital edema...	OMIM:618048
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Torticollis, Congenital kyphoscoliosis, Ovoid vertebral bod...	ORPHA:536467
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratode...	ORPHA:312
Carey-Fineman-Ziter Syndrome	Epicanthus, Facial palsy, Glandular hypospadias, Scoliosis, Downslanted palpebral fissures, Hydro...	ORPHA:1358
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Asthma, Spastic tetraplegia, Seizure, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Myoclonic seizure, Hepatomeg...	OMIM:280000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Exaggerated startle response, Epicanthus, Ataxia, Telecanthus, Facial hypot...	ORPHA:438216
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid th...	OMIM:252920
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal...	ORPHA:53035
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Thi...	ORPHA:2614
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, ...	OMIM:617591
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough, Facial hemangioma	ORPHA:137935
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Melnick-Needles Syndrome	Respiratory insufficiency, Prominent supraorbital ridges, Scoliosis, Vesicoureteral reflux, Hydro...	ORPHA:2484
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali...	ORPHA:223
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe...	ORPHA:64280
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Congenital Myopathy 17	Telecanthus, Failure to thrive in infancy, Polyhydramnios, Renal hypoplasia, Respiratory insuffic...	OMIM:618975
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella...	OMIM:616640
7Q11.23 Microduplication Syndrome	Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Cryptorchidism, Hydrocephalus,...	ORPHA:96121
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Hydrocephalus, Ureteral agenesis, Upslanted palpebral fissure, Congenita...	ORPHA:2437
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Micro Syndrome	Hypoplasia of penis, Kyphosis, Cryptorchidism, Abnormal localization of kidney, Seizure, Scoliosi...	ORPHA:2510
Joubert Syndrome	Ataxia, Apnea, Highly arched eyebrow, Episodic tachypnea, Tremor, Hydrocephalus, Abnormal form of...	ORPHA:475
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Ptosis	OMIM:614669
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Kyphosis...	ORPHA:171629
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Seizure, Anasarca...	OMIM:261740
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly,...	OMIM:251290
Zimmermann-Laband Syndrome 3	Kyphosis, Synophrys, Long eyelashes, Thick eyebrow	OMIM:618658
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid ...	OMIM:252930
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Ventriculomegaly, Hydronephrosis, Seizure, Scoliosis, Short ...	OMIM:300968
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Mucopolysacchariduria, Fai...	ORPHA:583
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ...	ORPHA:829
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Hydrocephalus, Focal-onset seiz...	OMIM:618476
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Short neck, Cryptorchidism, Seizure, V...	ORPHA:2059
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Hypercalcemia, Tremor, Kyphosis, Synophrys, Congenital ptosis, ...	ORPHA:476126
Pseudohypoparathyroidism Type 1B	Calcinosis, Short neck, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Myoclonic spasm...	ORPHA:94089
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands, R...	ORPHA:521426
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Hyperlysinemia	Tremor, Dysmetria, Opisthotonus, Cystinuria, Clumsiness, Seizure, Hypoornithinemia, Hyperlysinemi...	ORPHA:2203
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pn...	ORPHA:1855
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Respiratory insufficiency, ...	ORPHA:3191
Noonan Syndrome 10	Epicanthus, Short neck, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Underdevel...	OMIM:616564
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow	ORPHA:3406
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Tremor, Pe...	ORPHA:904
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysa...	ORPHA:447753
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Dyspnea, Upslanted palpebral fissu...	ORPHA:2707
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress, Unilateral renal agenesis, Polyhydramnios, Spl...	OMIM:618188
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis	ORPHA:970
Pearson Syndrome	Hydrops fetalis, Dehydration, Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, He...	ORPHA:699
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Apnea, Hypertonia, Myoclonus, Respi...	OMIM:614618
Hypoglossia With Situs Inversus	Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia	OMIM:612776
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Urinary incontinence, Oculogyric crisis, Rigidity, Babinski sign, A...	ORPHA:306674
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Lymphedema, Splenomegaly, Seizure, Aplasia/Hypoplasia of the eyebrow, Anemia	ORPHA:2930
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure	OMIM:313420
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Polyhydramnios, Hypoplastic c...	OMIM:114290
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Perry Syndrome	Hypoventilation, Parkinsonism, Central hypoventilation, Akinesia, Tremor, Rigidity, Respiratory i...	OMIM:168605
Alg9-Cdg	Hepatomegaly, Torticollis, Lower limb spasticity, Hypoplasia of the bladder, Ureteral hypoplasia,...	ORPHA:79328
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation	OMIM:184250
19P13.12 Microdeletion Syndrome	Epicanthus, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Synophrys, Hyperlipidemia, Obesity...	ORPHA:254346
Arthrogryposis, Distal, Type 3	Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchi...	OMIM:114300
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Seizure, Hyp...	ORPHA:79477
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Ataxia, Bilateral tonic-clonic s...	OMIM:252010
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Highly arched eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst, Upslanted palpeb...	OMIM:618454
Au-Kline Syndrome	Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Cryptorchidism, Chronic kidney disease, Di...	OMIM:616580
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Achondroplasia	Respiratory distress, Lumbar hyperlordosis, Polyhydramnios, Hydrocephalus, Upper airway obstructi...	OMIM:100800
Ddost-Cdg	Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Seizure, Fa...	ORPHA:300536
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Gaucher Disease	Elevated circulating C-reactive protein concentration, Tremor, Hydrops fetalis, Hepatomegaly, Ata...	ORPHA:355
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney	OMIM:618272
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Re...	ORPHA:1199
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Hyperurico...	ORPHA:79233
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Edema, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly...	OMIM:615846
Lateral Meningocele Syndrome	Epicanthus, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral b...	ORPHA:2789
Myotonic Dystrophy 1	Respiratory distress, Polyhydramnios, Facial diplegia, Cholelithiasis, Testicular atrophy	OMIM:160900
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dyston...	OMIM:233910
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Hydrocephalus, Cryptorchidism, Microp...	OMIM:619951
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Entropion, Dysuria, Ab...	ORPHA:36426
Winchester Syndrome	Kyphosis	OMIM:277950
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Epicanthus, Short neck, Cryptorchidism, Kyphosis, Abnormality of the ureter,...	ORPHA:3409
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
15Q Overgrowth Syndrome	Telecanthus, Ureterovesical stenosis, Hydrocephalus, Abnormal coccyx morphology, Abnormal renal m...	ORPHA:314585
Hyperekplexia 1	Exaggerated startle response, Apnea, Seizure, Hypertonia, Myoclonus, Aspiration, Frequent falls, ...	OMIM:149400
Intellectual Developmental Disorder, Autosomal Dominant 29	Generalized-onset seizure, Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Obesit...	OMIM:616078
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Hepatomegaly, Pancytopenia, Failure to thrive, Facial pa...	OMIM:259700
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Lower limb spasticity, Hepatomegaly, Renal insufficiency, Ataxia, ...	ORPHA:90321
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule	ORPHA:38
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Hypospadias, Tremor, Cryptorchidism, Respiratory insufficiency...	OMIM:614052
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly...	ORPHA:540
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Hyponatremia, Neonatal respiratory distress, Ataxia, Bilateral tonic-clonic...	OMIM:618426
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Epicanthus, Polyhydramnios, Splenomegaly, Reduced renal corticomedullary differenti...	OMIM:618541
Developmental And Epileptic Encephalopathy 101	Seizure, Apnea, Myoclonus, Opisthotonus	OMIM:619814
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Polyhydramnios, Abnormality ...	ORPHA:158684
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Polyhydramnios, Short neck, Facial capillary hemangioma, Abnormal form of th...	ORPHA:818
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Acanthosis ni...	OMIM:612526
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Decre...	OMIM:203800
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Hydrocephalus, Hemivertebrae, Scoliosis, Ureteral triplication, Downslanted palpebral...	OMIM:104350
Marinesco-Sjogren Syndrome	Ataxia, Elevated circulating creatine kinase concentration, Kyphosis, Limb ataxia, Gait ataxia, S...	OMIM:248800
Alpha-Mannosidosis	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Prominent supraorbital ridges, Scoliosis	ORPHA:61
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Seizure, Progressiv...	OMIM:607459
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Aqueductal stenosis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypo...	OMIM:619534
Cln5 Disease	Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Focal-onset seizure, ...	ORPHA:228360
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Cryptorchidism, Vertebral segmentation defect, Hypertonia, Scoliosis, Ptosis	ORPHA:2617
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Transient hyperphenylalaninemia, Dystonia, Oculomotor a...	OMIM:612716
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Thrombocytopenia, Spastic tetraplegia, Dysmetria, Seizure, A...	OMIM:617710
Metaphyseal Chondrodysplasia, Schmid Type	Waddling gait, Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnor...	ORPHA:174
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Xerostomia, Hyperkeratosis, Nephrotic syndrome, Keratoconjunctivitis sicca, Thin skin,...	ORPHA:238468
15Q24 Microdeletion Syndrome	Epicanthus, Small for gestational age, Hypospadias, Kyphosis, Cryptorchidism, Obesity, Microphall...	ORPHA:94065
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Polyhydramnios, Sho...	OMIM:229850
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
1Q21.1 Microdeletion Syndrome	Epicanthus, Cryptorchidism, Hydrocephalus, Seizure, Scoliosis, Vesicoureteral reflux, Failure to ...	ORPHA:250989
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Polyhydramnios, Neonatal asphyxia, Asthma, Generalized ichthyosis, Follicular ...	OMIM:608649
Schinzel-Giedion Syndrome	Respiratory distress, Short neck, Vocal cord paralysis, Renal cyst, Hypertonia, Shallow orbits, H...	ORPHA:798
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Jacobsen Syndrome	Multicystic kidney dysplasia, Epicanthus, Ectropion, Short neck, Thrombocytopenia, Cryptorchidism...	ORPHA:2308
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, Exe...	ORPHA:90037
3Mc Syndrome	Ptosis, Telecanthus, Highly arched eyebrow, Hyperlordosis, Bilateral cryptorchidism, Prominent co...	ORPHA:293843
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Dandy-Walker malformation, Hepatomegaly, Portal hypertension, Malform...	OMIM:208540
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Dyspnea, Lymphadenopathy, Cough	ORPHA:3386
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Steppage gait, Vocal cord paresis, Lumbar hyperlordosis, Scoliosis	OMIM:601152
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Epicanthus, Pancreatic ...	OMIM:617052
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Polyhydramnios, Hyperlordosis, Intercostal muscle weakness, Hypercapnia, Respirat...	ORPHA:2020
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	ORPHA:59303
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly,...	OMIM:607626
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Epicanthus, Macrocytic anemia, Sparse eyebrow, Granulocytopenia, Downslante...	OMIM:606164
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Periorbital edema, Recurrent pneumonia, Hypoplasia of the thymus, Multiple blad...	OMIM:613177
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T...	ORPHA:140
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Parakeratosis, E...	ORPHA:83617
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Hyper...	ORPHA:79452
Cerebellar-Facial-Dental Syndrome	Short neck, Sparse eyebrow, Cryptorchidism, Scoliosis, S-shaped palpebral fissures, Ureteropelvic...	ORPHA:444072
Costello Syndrome	Epicanthus, Failure to thrive in infancy, Polyhydramnios, Short neck, Cryptorchidism, Hyperkerato...	ORPHA:3071
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Epicanthus, Lumbar hyperlordosis, Hypospadias, Spastic tetraparesis, Blepharophimo...	OMIM:616975
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Ptosis, Infra-orbital crease, Hyperlordosis, Hypoplasia of the odontoid process, Hydrocephalus, S...	OMIM:616007
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Tre...	ORPHA:94093
Pituitary Adenoma 4, Acth-Secreting	Edema, Kyphosis, Obesity, Nephrolithiasis, Abdominal obesity, Hypokalemia, Thin skin, Biconcave v...	OMIM:219090
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Short neck, Splenopancreati...	OMIM:269150
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis, Ptosis	ORPHA:3454
Secondary Syringomyelia	Back pain, Dysuria, Paraplegia, Seizure, Pseudobulbar paralysis, Progressive cerebellar ataxia, D...	ORPHA:99857
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Hemiplegia	ORPHA:2181
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short neck, Cryptorchidism, Dacryo...	ORPHA:251028
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc...	ORPHA:210122
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Kyphoscoliosis	OMIM:618339
Adenylosuccinase Deficiency	Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Elevated circulating creatine kinase con...	OMIM:164310
Congenital Disorder Of Glycosylation, Type Im	Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Tetraplegia, Hyper...	OMIM:610768
Ramon Syndrome	Hyperkeratosis, Seizure, Failure to thrive	ORPHA:3019
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Edema, Elevated circulating C-reactive protein concentr...	ORPHA:1451
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-on...	ORPHA:501
Metaphyseal Chondrodysplasia, Schmid Type	Waddling gait, Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis	OMIM:156500
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis, Seizure, Elevated circulating creatine kinase concentration	OMIM:618138
Kleefstra Syndrome 2	Kyphosis, Thick eyebrow, Seizure, Scoliosis	OMIM:617768
Biotinidase Deficiency	Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Hyperammonemia, Seizure, Organic aciduria, ...	OMIM:253260
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Polyhydramnios, Short n...	OMIM:151210
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Polyhydramnios, Short neck, Coronal cleft ve...	ORPHA:1427
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Small for gestational age, Sparse eyelashes, Hyperlordosis, Spars...	OMIM:234100
Succinic Acidemia	Respiratory distress	OMIM:600335
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Seizure, Restrictive ventilatory defect, Hyperkinetic movements, Scoliosis, Truncal ataxi...	ORPHA:369847
Typhoid	Hepatomegaly, Ataxia, Epistaxis, Tremor, Splenomegaly, Hypertonia, Cough	ORPHA:99745
Ectodermal Dysplasia-Syndactyly Syndrome 2	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi...	OMIM:613576
Congenital Erythropoietic Porphyria	Anisocytosis, Edema, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopenia, E...	ORPHA:79277
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Splenomegaly, Hyperkeratosis, Palmoplantar keratoderma, Thin skin	ORPHA:742
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Pericardial effusion, Splenomegaly, Hydrops feta...	ORPHA:77261
6Q Terminal Deletion Syndrome	Hypospadias, Highly arched eyebrow, Short neck, Phimosis, Obesity, Dysmetria, Gait ataxia, Seizur...	ORPHA:75857
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Upslanted palpebral fissure, Webbed neck,...	ORPHA:1780
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Congenital kyphoscoliosis, Kyphoscoliosis, Synophrys, Atlantoaxial instability, Bladd...	ORPHA:536545
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hydrocephalus, Bilateral ptosis, Respiratory ins...	ORPHA:163979
Clark-Baraitser syndrome	Kyphosis, Obesity, Seizure, Heavy supraorbital ridges, Scoliosis, Macroorchidism, Downslanted pal...	OMIM:300602
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Bilateral tonic-clonic seizure, Polyhydr...	OMIM:261515
Hereditary Sensory And Autonomic Neuropathy Type 1	Inability to walk, Hyperkeratosis, Steppage gait, Gait imbalance, Cough	ORPHA:36386
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Ruvalcaba Syndrome	Kyphosis, Cryptorchidism, Abnormal localization of kidney, Hematuria, Seizure, Scoliosis, Abnorma...	ORPHA:3121
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Urinary incontinence, Photosensitive tonic-clonic seizure, Loss of ability to walk in fir...	OMIM:300243
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Apnea, Clonus, Tremor, Jaundice, Hypopnea, Seizure, 3-Methylglutaric aciduria, Hyperton...	OMIM:617248
Digeorge Syndrome	Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Chronic pu...	OMIM:188400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Telecanthus, Neonatal respiratory distress, Hypospadias, Tracheomalacia, Sh...	OMIM:217980
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Telecanthus, Hydroureter, Renal agenesis, Sparse e...	OMIM:129900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro...	OMIM:616084
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Hydronephrosis, Ptosis	ORPHA:2496
Fanconi Anemia, Complementation Group O	Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Oroticaciduria, Increased circulating ferritin concent...	OMIM:222700
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Res...	OMIM:601186
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Lumbar kyphosis, Upslanted p...	OMIM:619234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Parakeratosis, Hypercalcemia, Exercise-induced myoglobinuria, Chro...	ORPHA:284426
Duane-Radial Ray Syndrome	Renal malrotation, Epicanthus, Renal agenesis, Facial palsy, Renal hypoplasia, Horseshoe kidney, ...	OMIM:607323
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Edema, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iro...	ORPHA:100078
Smith-Lemli-Opitz Syndrome	Facial capillary hemangioma, Renal cyst, Hypertonia, Hypoalbuminemia, Hypocholesterolemia, Microp...	OMIM:270400
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia, Seizure, Methemoglobinemia	ORPHA:464453
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm...	ORPHA:107
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Tremor, Abno...	ORPHA:263455
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Hurler Syndrome	Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process,...	OMIM:607014
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Prominent eyelashes, Upslanted palpebral fissure, Seizure, Hype...	OMIM:616420
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Fetal megac...	ORPHA:73246
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Urethral atresia, Scoliosis, Supern...	OMIM:271520
Xeroderma Pigmentosum	Conjunctival telangiectasia, Entropion, Ataxia, Cryptorchidism, Thickened skin, Ankyloblepharon, ...	ORPHA:910
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Antecubita...	OMIM:161200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cryptorchidism, Neonatal asphyxia, Multiple bladder diverticula, Blepharophimosis, P...	ORPHA:2728
9P13 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Hand tremor, Myoclonus, Scoliosis, Thick eyebrow	ORPHA:324313
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath...	ORPHA:85414
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Epicanthus, Polyhydramnios, Large for gestational age, Short neck, ...	OMIM:607721
Cockayne Syndrome Type 2	Lower limb spasticity, Hepatomegaly, Ataxia, Kyphosis, Cryptorchidism, Conjunctivitis, Gait distu...	ORPHA:90322
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis, Vertebral segmentation defect, Scoliosis, Hyperlordosis	ORPHA:1323
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Acantholysis, Fac...	ORPHA:293173
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia...	OMIM:214500
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dilatation of the renal pelvis, Bronchiectasis, Dysmetria, Int...	OMIM:619708
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste...	ORPHA:1606
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Overweight, Kyphosis, Hydrocephalus, Cryptorchidism, Asthma, Seizure, Gait dis...	ORPHA:500055
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Thickened skin, Palmoplantar hyperkeratosis, Co...	ORPHA:189
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Epicanthus, Abnormal hemoglobin, Abnorma...	ORPHA:847
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Joubert Syndrome With Ocular Defect	Ataxia, Apnea, Highly arched eyebrow, Tremor, Hydrocephalus, Seizure, Gait disturbance, Scoliosis...	ORPHA:220493
Tetrasomy 5P	Respiratory distress, Epicanthus, Short neck, Hydrocephalus, Upslanted palpebral fissure, Seizure...	ORPHA:3309
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Epicanthus, Increased vertebral height, Splenomegaly, Babinski sign, Abnormal pyram...	OMIM:248500
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Hydrocephalus, Abnormality of the gallbladde...	ORPHA:2075
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short...	ORPHA:457395
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Aqueductal stenosis, Horseshoe kidney, Seizure, Vesicourete...	ORPHA:93260
Pachydermoperiostosis	Hepatomegaly, Cerebral palsy, Edema, Splenomegaly, Thickened skin, Joint swelling, Palmoplantar k...	ORPHA:2796
Rubinstein-Taybi Syndrome 1	Respiratory distress, Polyhydramnios, Bilateral cryptorchidism, Hepatic hemangioma, Spina bifida ...	OMIM:180849
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Hydrocephalus, P...	ORPHA:1546
Eec Syndrome	Entropion, Hypospadias, Renal hypoplasia/aplasia, Sparse eyebrow, Xerostomia, Urethral atresia, H...	ORPHA:1896
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck	OMIM:612921
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnio...	OMIM:265380
Donohue Syndrome	Long penis, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Hepatic fibrosis, Pancreatic islet...	OMIM:246200
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Atreti...	ORPHA:30391
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Epicanthus, Bilateral to...	ORPHA:79500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Cerebral edema, Myoclonic seizure, Seizure, Bradypnea, Res...	OMIM:617186
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Hepatomegaly, Block vertebrae, Renal agenesis, Polyh...	OMIM:306955
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Dyspnea, Babinski sign, Renal tubular dysfunction, Exertional dy...	OMIM:616539
Kabuki Syndrome 1	Micropenis, Abnormal vertebral morphology, Recurrent aspiration pneumonia, Hemolytic anemia, High...	OMIM:147920
Distal Deletion 12Q	Telecanthus, Unilateral cryptorchidism, Failure to thrive in infancy, Kyphoscoliosis, Short neck,...	ORPHA:96149
Tetraploidy	Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Hyperlordosis, Lagophthalmos, Short neck, Scoliosis, Ptosis	OMIM:615065
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Hereditary Mucoepithelial Dysplasia	Hematuria, Hyperkeratosis, Abnormality of the bladder	ORPHA:1839
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Hydrops fetalis, Intercrural pterygium, Pterygium, Neonatal respiratory distress, Hyp...	OMIM:265000
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Nasolacrimal duct obstruction, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Pseudohypoparathyroidism Type 1C	Calcinosis, Short neck, Dyspnea, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low ur...	ORPHA:79444
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Lymphedema, Retinal hamartoma, Dyspnea, Hydrocephalus, Ab...	ORPHA:538
Noonan Syndrome 2	Epicanthus, Polyhydramnios, Short neck, Sparse eyebrow, Cryptorchidism, Increased nuchal transluc...	OMIM:605275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scolio...	OMIM:162300
Toluene Embryopathy	Epicanthus, Cryptorchidism, Abnormal localization of kidney, Hydronephrosis, Short palpebral fissure	ORPHA:1920
Hypomelanosis Of Ito	Kyphosis, Epicanthus, Seizure, Scoliosis	OMIM:300337
Trichohepatoenteric Syndrome 1	Polyhydramnios, Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Hypospadias, Increased mean plat...	OMIM:222470
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Urinary u...	OMIM:168600
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Highly arched ey...	OMIM:619005
Marden-Walker Syndrome	Epicanthus, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Renal hypoplasia, Seizure, Scolios...	OMIM:248700
Chromosome 18Q Deletion Syndrome	Epicanthus, Broad-based gait, Failure to thrive in infancy, Hypospadias, Short neck, Tremor, Cryp...	OMIM:601808
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Macrocephaly/Autism Syndrome	Speech apraxia, Hepatomegaly, Epicanthus, Penile freckling, Large for gestational age, Splenomega...	OMIM:605309
Saethre-Chotzen Syndrome	Epicanthus, Hyperlordosis, Cryptorchidism, Abnormal form of the vertebral bodies, Blepharospasm, ...	ORPHA:794
Fountain Syndrome	Epicanthus, Facial edema, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Seizure, Sc...	ORPHA:3219
Odontochondrodysplasia	Respiratory distress, Platyspondyly, Scoliosis	ORPHA:166272
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia...	ORPHA:428
48,Xxxy Syndrome	Renal dysplasia, Hypoplasia of penis, Epicanthus, Short neck, Tremor, Cryptorchidism, Pulmonary e...	ORPHA:96263
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Noonan Syndrome 14	Epicanthus, Lacrimal duct stenosis, Polyhydramnios, Short neck, Sparse eyebrow, Kyphosis, Cryptor...	OMIM:619745
Acro-Renal-Ocular Syndrome	Vertebral fusion, Renal malrotation, Epicanthus, Renal hypoplasia/aplasia, Horseshoe kidney, Blad...	ORPHA:959
Pseudohypoparathyroidism Type 1A	Calcinosis, Involuntary movements, Short neck, Dyspnea, Obesity, Choreoathetosis, Hyperphosphatem...	ORPHA:79443
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha...	ORPHA:100050
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Paralysis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar k...	OMIM:242100
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Baller-Gerold Syndrome	Epicanthus, Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kid...	ORPHA:1225
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Seizure, Eyelid coloboma, Limbal dermoid, Pelvic kidney, Hydroneph...	OMIM:613001
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Tremor, Obesity, Enuresis nocturna, Upslan...	OMIM:619680
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Ptosis, Ataxia, Proteinuria, Polyuria, Dyspnea, Tachypnea...	OMIM:243910
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Elevated urin...	ORPHA:653
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Waddling gait, Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Thickened skin, Red urine...	OMIM:263700
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of penis, Polyhydramnios	ORPHA:990
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, Ataxia, White eyebrow, Portal hypertension, Cryptorchidism, Spastic...	OMIM:609136
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ank...	OMIM:609541
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein...	ORPHA:60025
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Hydrocephalus, Seizure, Mucopolysacchariduria, Ichthyosis, Thick eyebrow	ORPHA:585
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor,...	ORPHA:25
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Splenomegaly, Recurrent pneumonia, W...	ORPHA:47612
Wiedemann-Rautenstrauch Syndrome	Tremor, Synophrys, Wide penis, Hypoplastic vertebral bodies, Hypertonia, Vesicoureteral reflux, A...	ORPHA:3455
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Opitz Gbbb Syndrome	Enlarged ovaries, Telecanthus, Hypospadias, Recurrent aspiration pneumonia, Tracheomalacia, Crypt...	ORPHA:2745
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Kniest Dysplasia	Respiratory distress, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis, ...	OMIM:156550
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bilateral tonic-...	ORPHA:2072
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Small for gestational age, Lacrimal duct stenosis, Facial hypotonia, ...	ORPHA:506358
Hepatoerythropoietic Porphyria	Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Thickened skin, Loss of eyelash...	ORPHA:95159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Multicystic kidney dysplasia, Elevated circulating creatine kinase c...	OMIM:615287
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Epicanthus, Ataxia, Hypospadias, Polyhydramnios, Tremor, Bilateral cryptorchidism, Cryptorchidism...	OMIM:300998
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements, Infantile spasms	OMIM:618374
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Eisenmenger Syndrome	Respiratory distress, Brain abscess, Hepatomegaly, Renal insufficiency, Elevated circulating C-re...	ORPHA:97214
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Hepatitis, Hematuria, Seizure, Hyperkeratosis, Cough	ORPHA:1334
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Sotos Syndrome	Ureteral duplication, Tremor, Pedal edema, Vesicoureteral reflux, Abnormal vertebral morphology, ...	ORPHA:821
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hyperkerat...	OMIM:301220
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Xerostomia, Conjunctivitis, Cough, Neutropenia, Chemosis, Conjunctival hype...	ORPHA:95455
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Epicanthus, Kyphosis, Spastic tetraplegia, Respiratory insufficiency, Upslan...	OMIM:619909
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Recurrent pneumonia, Nephrolithiasis, Platyspondyly, Sc...	OMIM:613848
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Respirat...	ORPHA:99956
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Cryptorchidism, Increased nuchal translucency, Typical absence seizure, Inability to walk, Seizur...	ORPHA:453504
Williams-Beuren Syndrome	Vocal cord paralysis, Nephrocalcinosis, Periorbital fullness, Vesicoureteral reflux, Micropenis, ...	OMIM:194050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Cryptorchidism, Increased nuchal translucency, Typical absence seizure, Inability to walk, Seizur...	ORPHA:352665
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Webbed neck	ORPHA:1439
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Increased nuchal translucency	ORPHA:77300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno...	OMIM:308050
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Ascites, Lumbar hyperlordosis	ORPHA:2848
Flynn-Aird Syndrome	Ataxia, Cachexia, Kyphosis, Seizure, Scoliosis	ORPHA:2047
Al-Gazali Syndrome	Failure to thrive, Recurrent pneumonia, Hydronephrosis, Polyhydramnios	OMIM:609465
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Kyphosis, Scoliosis	ORPHA:1883
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Protein...	ORPHA:2750
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress, Generalized edema	OMIM:271225
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Rigidity, Thrombocytopenia, Splenomegaly, Stridor, Seizure, Hypertonia, Coug...	OMIM:230900
Kagami-Ogata Syndrome	Hepatomegaly, Polyhydramnios, Kyphoscoliosis, Splenomegaly, Seizure, Blepharophimosis, Pulmonary ...	OMIM:608149
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Trisomy 18	Epicanthus, Abnormality of the upper urinary tract, Cachexia, Blepharophimosis, Cryptorchidism, H...	ORPHA:3380
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Lower limb dysmetria, Sinusitis, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/apla...	ORPHA:363700
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Oculocerebrorenal Syndrome Of Lowe	Clonus, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Palmoplantar ke...	ORPHA:1555
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
White-Kernohan Syndrome	Epicanthus, Hydroureter, Telecanthus, Thick eyebrow, Synophrys, Broad medial eyebrow, Obesity, Ho...	OMIM:619426
Chitayat Syndrome	Respiratory distress, Tracheomalacia, Polyhydramnios	OMIM:617180
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Nocardiosis	Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P...	ORPHA:31204
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Cerebrotendinous Xanthomatosis	Resting tremor, Abnormality of the vertebral spinous processes, Dystonia, Ataxia, Parkinsonism, A...	ORPHA:909
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Hyper...	ORPHA:2636
Hermansky-Pudlak Syndrome	Renal insufficiency, Epistaxis, Thickened skin, Dyspnea, Weight loss, Hyperkeratosis, Long eyelas...	ORPHA:79430
Mcleod Syndrome	Hepatomegaly, Generalized-onset seizure, Elevated circulating aspartate aminotransferase concentr...	OMIM:300842
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Hurler Syndrome	Hepatomegaly, Cerebral palsy, Abnormality of the tonsils, Short neck, Splenomegaly, Hydrocephalus...	ORPHA:93473
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Failure ...	ORPHA:2115
Pachyonychia Congenita	Respiratory distress, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar ker...	ORPHA:2309
Tuberous Sclerosis Complex	Respiratory distress, Epileptic spasm, Renal insufficiency, Abnormality of the kidney, Infantile ...	ORPHA:805
Frontometaphyseal Dysplasia 1	Hydroureter, Stridor, Fused cervical vertebrae, Prominent supraorbital ridges, Scoliosis, Cervica...	OMIM:305620
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive an...	OMIM:613309
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Polyhydramnios, Edema, Renal salt ...	OMIM:613090
Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Ichthyosis	ORPHA:461
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Emphysema, Oligohydramnios	OMIM:219100
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Cardiomegaly, Pericardial effusion, Dyspnea, Ascites, Pulmona...	OMIM:115197
Crisponi Syndrome	Kyphosis, Respiratory insufficiency, Seizure, Hypertonia, Scoliosis	ORPHA:1545
Otopalatodigital Syndrome Type 2	Hypospadias, Hydrocephalus, Hydronephrosis, Prominent supraorbital ridges, Scoliosis, Abnormal ve...	ORPHA:90652
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Abnormality of the kidney, Short neck, Almond-shaped palpebral fissure, Obe...	ORPHA:177907
Mycetoma	Back pain, Abdominal mass, Pelvic mass, Abnormality of the lymphatic system, Paraplegia, Abnormal...	ORPHA:2583
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ...	ORPHA:2635
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Infra-orbital crease, Hypospadias, Hydrocephalus, Underdeveloped supraorbit...	OMIM:123790
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Epicanthus, Short neck, Cryptorchidism, Hydroce...	OMIM:305450
Melkersson-Rosenthal Syndrome	Facial palsy, Edema, Periorbital edema, Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Generalized non-motor (a...	OMIM:610293
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Leukopenia, Abnorma...	ORPHA:1304
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Upslanted palpebral fissure, Hyperkeratosis, Vertebral segmentation defect, Scoliosis, ...	ORPHA:1005
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
3Mc Syndrome 1	Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Highly arched eyebrow, Blepharop...	OMIM:257920
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Sparse eyelashes, Scoliosis, Hyperlordosis	ORPHA:77258
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal...	ORPHA:191
Okamoto Syndrome	Ptosis, Infra-orbital crease, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Pr...	ORPHA:2729
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary edema	ORPHA:70587
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Synophrys, Long eyelashes, Thick eyebrow	OMIM:616455
Smith-Mccort Dysplasia 2	Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight	OMIM:615222
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Babin...	OMIM:278800
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Bilateral tonic-clonic seizure, Dilatation of renal calices, Synophrys, Poor coordina...	ORPHA:466943
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypertonia, Gliosis, Micropenis, Ataxia, Hypospadias, Cryptorchidism, Typical absence seizure, Se...	ORPHA:268261
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor...	ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Synophrys, Prominent protruding coccyx, Spas...	OMIM:300966
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Sclerotic vertebral endplates,...	OMIM:611490
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha...	OMIM:219800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Epicanthus, Polyhydramnios, Splenomegaly, Aplasia of the epig...	OMIM:617088
Prader-Willi Syndrome	Hypoventilation, Failure to thrive in infancy, Polyhydramnios, Almond-shaped palpebral fissure, K...	OMIM:176270
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Tremor, Kyphosis, Synophrys, Upslanted palpebral fissure, Seizure, Periorbital fullne...	OMIM:617061
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Respiratory distress, Hooded eyelid, Sparse eyelashes, Hydrocephal...	OMIM:612863
Hennekam Syndrome	Epicanthus, Lymphedema, Pericardial effusion, Splenomegaly, Ectopic kidney, Pulmonary lymphangiec...	ORPHA:2136
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor	ORPHA:97285
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Epicanthus, Splenomegaly, Kyphosis, Thickened...	ORPHA:576
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili...	ORPHA:922
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Small for gestational age, Tremor, ...	ORPHA:69665
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,...	OMIM:272460
Urachal Cyst	Abdominal mass, Dysuria, Abscess, Pyuria, Elevated circulating C-reactive protein concentration, ...	ORPHA:488
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Pfeiffer Syndrome	Ptosis, Hyperlordosis, Short neck	ORPHA:710
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Epicanthus, Polyhydramnios, Narrow palpebral fissure, Respiratory failure, Hydronephrosis	ORPHA:254528
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,...	OMIM:612714
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Abnormality of the tonsils, Hemiplegia/hemiparesis, Hydrocephalus, Splenomegaly...	ORPHA:579
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ...	ORPHA:465508
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Osteopathia Striata-Cranial Sclerosis Syndrome	Epicanthus, Facial palsy, Hyperlordosis, Scoliosis, Spina bifida occulta	ORPHA:2780
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Downslanted palpebral fissures, Polyhydramnios	OMIM:202650
Aicardi-Goutières Syndrome	Cardiomegaly, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hypertonia, Micropenis, Extrapyra...	ORPHA:51
Mosaic Trisomy 8	Short neck, Cryptorchidism, Hydronephrosis, Vertebral segmentation defect, Scoliosis, Vesicourete...	ORPHA:96061
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Multiple eyelid margin cysts, Palmoplantar keratoderma	OMIM:224750
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti...	OMIM:610921
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar...	OMIM:230800
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactiv...	OMIM:614204
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Telecanthus, Hydroureter, Small for gestational age, Pelvic kidney, Ve...	OMIM:300707
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhyd...	OMIM:602522
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Desbuquois Dysplasia 2	Epicanthus, Lumbar hyperlordosis, Neonatal respiratory distress, Short neck, Synophrys, Truncal o...	OMIM:615777
Gerstmann-Straussler-Scheinker Syndrome	Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia	ORPHA:356
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Cryptorchidism, Neonatal respiratory distress, Lumbar hyperlordosis, Downslanted palpebral fissures	OMIM:602471
Scheie Syndrome	Hepatomegaly, Cerebral palsy, Splenomegaly, Mucopolysacchariduria, Rhinitis, Spastic paraparesis	ORPHA:93474
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:606002
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:619040
Chops Syndrome	Chronic lung disease, Tracheomalacia, Splenomegaly, Cryptorchidism, Synophrys, Obesity, Horseshoe...	OMIM:616368
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Upslanted palpebral fissure, Aplasia/H...	ORPHA:3082
Chime Syndrome	Epicanthus, Abnormality of the kidney, Acute leukemia, Upslanted palpebral fissure, Seizure, Hype...	ORPHA:3474
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Adnp Syndrome	Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, B...	ORPHA:404448
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Hydroureter, Abnormal nasolacrimal system morphology, Abnormality of the kidney, ...	ORPHA:2273
Frank-Ter Haar Syndrome	Kyphosis, Thickened skin, Scoliosis, Beaking of vertebral bodies, Downslanted palpebral fissures	ORPHA:137834
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Midline facial capilla...	OMIM:146510
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Nasolacrimal duct obstruction, Upslanted palpebral ...	ORPHA:1297
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Abnormal pyramidal sign, Abnormal form of the vertebral bod...	ORPHA:581
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car...	OMIM:232220
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Epicanthus, Cryptorchidism, Seizure, Pulmonary arterial hypertension, Micro...	ORPHA:2519
Trichodermodysplasia-Dental Alterations Syndrome	Hyperlordosis, Sparse or absent eyelashes, Palmoplantar keratoderma, Adenoma sebaceum, Scoliosis,...	ORPHA:3353
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Epicanthus, Apnea, Tremor, Truncal titubation, Dysmetria, Gait atax...	OMIM:618056
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Recurrent pneumonia, Coronal cleft vertebrae, Platyspondyly, Prominent supr...	OMIM:215150
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Elevated circ...	OMIM:614298
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Allergic rhinitis, Abnormal eyelash morphology, Hyper...	ORPHA:90368
Acute Radiation Syndrome	Hyperkeratosis, Seizure, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Cousin Syndrome	Short neck, Hydrocephalus, Prominent protruding coccyx, Narrow palpebral fissure, Blepharophimosi...	OMIM:260660
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Epicanthus, Polyhydramnios, Short neck, Lymphedema, Splenomegal...	OMIM:613563
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Urinary incontinence, Acanthocytosis, Tremor, Rigidity, Aki...	OMIM:234200
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi...	OMIM:173200
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Loss of am...	ORPHA:2388
Premature Aging Syndrome, Penttinen Type	Thickened skin, Palmoplantar hyperkeratosis, Corneal stromal edema, Hyperkeratosis, Thin skin, Sc...	OMIM:601812
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Epi...	OMIM:251260
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Generalized-onset seizure, Microvesicular hepatic steatosis, Infra-orbital fold, Hepatic steatosi...	OMIM:619418
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Obesity, Platyspondyly, Scoliosis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Trisomy 8P	Sacral dimple, Short neck, Cryptorchidism, Hydrocephalus, Fetal pyelectasis, Micropenis, Nephroca...	ORPHA:264450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Renal cyst, Micropenis, Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Respiratory...	OMIM:210710
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Por...	OMIM:610199
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly, Thoracic kyphosis, Ne...	OMIM:271510
Wolfram Syndrome	Central apnea, Recurrent urinary tract infections, Ataxia, Dysuria, Abnormal mesentery morphology...	ORPHA:3463
Trichorhinophalangeal Syndrome, Type I	Thin eyebrow, Sparse lateral eyebrow, Scoliosis, Hyperlordosis	OMIM:190350
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Pneu...	OMIM:614700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Autosomal Recessive Robinow Syndrome	Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Epicanthus, Short neck, Kyphosi...	ORPHA:1507
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Ichthyosis follicularis, Multicystic kidney dysplasia, Subungual hyperkeratosis,...	OMIM:308205
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Tremor, Kyphosis, Splenomegaly, Cryptorch...	OMIM:216400
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Ptosis	OMIM:617143
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Kyphosis, Thrombocytopenia, Cryptorchidism, Upslanted palpebral fissure, S...	ORPHA:261250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Kyphosis, Hydrocephalus, Seizure, Long palpebral fissure, Ventriculomegaly, P...	OMIM:603387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Upslanted palpebral fissure, Hydronephrosis, Incre...	OMIM:154230
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:1858
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Cryptorchidism, Hemive...	OMIM:268310
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Failure to thrive, Decreased te...	OMIM:201100
Pmm2-Cdg	Respiratory distress, Lymphedema, Hepatic fibrosis, Hypoalbuminemia, Aspiration pneumonia, Dandy-...	ORPHA:79318
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Congenital non...	OMIM:242300
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Hypophosphaturia, Hyperlordosis, Thickened skin, Synophrys, Epidermal thickening, Ort...	ORPHA:73223
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Congenital ichthyosiform eryth...	OMIM:602400
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Kallmann Syndrome	Hypoplasia of penis, Ataxia, Renal agenesis, Tremor, Cryptorchidism, Obesity, Paraplegia, Seizure...	ORPHA:478
Cono-Spondylar Dysplasia	Polyhydramnios, Short neck, Kyphosis, Poor coordination, Seizure, Scoliosis, Failure to thrive	ORPHA:420794
Unilateral Polymicrogyria	Apnea, Involuntary movements, Infantile spasms, Epistaxis, Focal-onset seizure, Spastic tetrapleg...	ORPHA:268943
Distal 22Q11.2 Microdeletion Syndrome	Recurrent urinary tract infections, Highly arched eyebrow, Hyperlordosis, Blepharophimosis, Seizu...	ORPHA:261330
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Edema, Weight loss	ORPHA:33577
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Repeated pneumothoraces, Kyphosis, Cryptorchidism, Up...	OMIM:617602
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Multifocal seizures, Ataxia, Tremor, Thrombocytopenia, Spastic tetraple...	ORPHA:572798
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Epicanthus, Splenomegaly, Cryptorchidism, S...	ORPHA:251066
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Edema, Polyhydramnios, Per...	ORPHA:51608
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis...	OMIM:615023
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Kyphosis, Cryptorchidism, Dyspnea, Abnormal circulating creatine kinase concentra...	ORPHA:2215
Joubert Syndrome 21	Ataxia, Apnea, Splenomegaly, Dyspnea, Renal cyst, Seizure, Respiratory failure, Oculomotor apraxi...	OMIM:615636
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Kyphosis, Cryptorchidism, Bilateral ptosis, Upslanted palpebral fissure, S...	ORPHA:404440
Tyrosinemia Type 2	Ataxia, Tremor, Seizure, Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Melnick-Needles Syndrome	Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Gait disturbance, Pr...	OMIM:309350
Satoyoshi Syndrome	Sparse or absent eyelashes, Hyperlordosis	ORPHA:3130
Subependymal Nodular Heterotopia	Focal-onset seizure, Seizure, Limb myoclonus, Focal aware seizure	ORPHA:101030
Knobloch Syndrome 1	Duplicated collecting system, Epicanthus, Telecanthus, Ataxia, Myoclonic seizure, Bifid ureter, S...	OMIM:267750
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Epicanthus, Edema, Short neck, Polyhydramnios, Splenomegaly, Hydrocephalus, Renal h...	OMIM:269860
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Seizure, Gait disturbance, Scoliosis	ORPHA:88628
Lipoid Proteinosis	Hyperkeratosis, Seizure, Dystonia, Thickened skin	ORPHA:530
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Hepatome...	OMIM:613610
Irida Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Decreased circulating copper concentration, Ichthyosis	ORPHA:209981
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Prolonged neonatal jaundice	ORPHA:226313
Atelis Syndrome 2	Sacral dimple, Epicanthus, Kyphosis, Thrombocytopenia, Dyspnea, Dysmetria, Seizure, Dacryocystoce...	OMIM:620185
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Genitopatellar Syndrome	Multicystic kidney dysplasia, Apnea, Cryptorchidism, Seizure, Hydronephrosis	ORPHA:85201
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad...	OMIM:243800
Mckusick-Kaufman Syndrome	Hydroureter, Edema, Cryptorchidism, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistu...	OMIM:236700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Kyphosis, Cryptorchidism, Elev...	OMIM:615381
Teebi-Shaltout Syndrome	Ptosis, Telecanthus, Ureteral stenosis, Highly arched eyebrow, Horseshoe kidney, Hydronephrosis, ...	OMIM:272950
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Epileptic spasm, Ataxia, Akinesia, Tremor, Thickened...	ORPHA:86309
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Epicanthus, Lumbar hyperlordosis, Generalized-onset seizure, Failure to thriv...	ORPHA:500150
Incontinentia Pigmenti	Eosinophilia, Hemiplegia/hemiparesis, Seizure, Hyperkeratosis, Gait disturbance, Scoliosis, Pulmo...	ORPHA:464
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Epicanthus, Small for gestational age, Abnormality of t...	ORPHA:508488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Aspiration, Ab...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Aspiration, Ab...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Hyperventilation, Kyphosis, Upslanted palpebral fissure, Seizure, Tip-to...	OMIM:618050
Cat Eye Syndrome	Epicanthus, Renal agenesis, Biliary atresia, Horseshoe kidney, Vesicoureteral reflux, Downslanted...	OMIM:115470
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ptosis, Seizure, Myoclonus, Gait ataxia	ORPHA:70595
Meningioma	Back pain, Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary incontinence, Facia...	ORPHA:2495
Mend Syndrome	Sacral dimple, Kyphosis, Hydrocephalus, Cryptorchidism, Upslanted palpebral fissure, Seizure, Nar...	OMIM:300960
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Ataxia, Small for gestational age, Proteinuria, Tremor, Kyphos...	OMIM:133540
Oeis Complex	Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Cryptorchidism,...	OMIM:258040
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Telecanthus, Short neck, Kyphosis, Hydrocephalus, Cryptorch...	OMIM:130720
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Synophrys, Spina bifida occulta	ORPHA:2983
Menkes Disease	Thickened skin, Chorea, Seizure, Bladder diverticulum, Hypertonia, Prolonged neonatal jaundice, S...	ORPHA:565
Metachromatic Leukodystrophy	Incoordination, Ataxia, Urinary incontinence, Dystonia, Tremor, Abnormal gallbladder morphology, ...	ORPHA:512
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Stromme Syndrome	Accessory spleen, Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Cowden Syndrome	Abnormal penis morphology, Ataxia, Abnormality of the kidney, Conjunctival hamartoma, Enlarged po...	ORPHA:201
Meier-Gorlin Syndrome 1	Respiratory distress, Small for gestational age, Cryptorchidism, Emphysema, Hemivertebrae, Long e...	OMIM:224690
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Lichen Planopilaris	Hyperkeratosis, Pterygium, Hepatitis	ORPHA:525
Iniencephaly	Renal agenesis, Polyhydramnios, Hyperlordosis, Hydrocephalus, Absent vertebra, Dandy-Walker malfo...	ORPHA:63259
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, He...	ORPHA:447
Charge Syndrome	Epicanthus, Facial palsy, Polyhydramnios, Highly arched eyebrow, Aqueductal stenosis, Cryptorchid...	ORPHA:138
Diastrophic Dysplasia	Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoli...	ORPHA:628
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Short neck, Horseshoe kidney, Duplication of renal pel...	DECIPHER:81
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Epicanthus, Hypospadias, Urinary incontinence, ...	OMIM:619522
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-...	ORPHA:3261
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Thoracic scoliosis, Respiratory failure, Chylothorax, Weakness of facial mu...	OMIM:620278
Cohen Syndrome	Failure to thrive in infancy, Abnormal eyelid morphology, Abnormal eyelash morphology, Cryptorchi...	ORPHA:193
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Telecanthus	OMIM:617102
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Cowden Syndrome 1	Acrokeratosis, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Seizure, Scoliosis, Lymph...	OMIM:158350
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Hypoalbuminemia...	OMIM:615508
Orofaciodigital Syndrome Type 6	Epicanthus, Ataxia, Renal agenesis, Highly arched eyebrow, Renal hypoplasia/aplasia, Tremor, Bila...	ORPHA:2754
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Epicanthus, Telecanthus, Bilateral tonic-clonic seizure, Broad-based gait, Short neck, Asthma, Re...	OMIM:620330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Kyphosis, Hypopnea, Seizure, Restrictive ventilator...	OMIM:619482
Ruvalcaba Syndrome	Kyphosis, Downslanted palpebral fissures, Scoliosis, Cryptorchidism	OMIM:180870
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Platyspondyly, Hydrocephalus	ORPHA:163966
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Pedal edema, Lymphadenop...	ORPHA:342
Hajdu-Cheney Syndrome	Hepatomegaly, Telecanthus, Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, H...	ORPHA:955
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Hepatomegaly, Neonatal...	OMIM:312870
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform e...	ORPHA:100976
Raine Syndrome	Hydroureter, Highly arched eyebrow, Short neck, Hydrocephalus, Hypophosphatemia, Downslanted palp...	OMIM:259775
Leprechaunism	Hepatomegaly, Enlarged ovaries, Thickened skin, Long penis, Hypercalciuria, Nephrocalcinosis, Hyp...	ORPHA:508
Restrictive Dermopathy 2	Respiratory distress, Thickened skin, Scleroderma	OMIM:619793
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Dermatochalasis, Pneumothorax, Recurrent pneumonia, Respirato...	ORPHA:90349
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Bronchospasm, Short neck	OMIM:612813
Shprintzen Omphalocele Syndrome	Epicanthus, Lumbar hyperlordosis, Neonatal respiratory distress, Kyphosis, Scoliosis, Webbed neck...	OMIM:182210
Congenital Tracheal Stenosis	Respiratory distress, Abnormality of the kidney, Fetal ascites, Polyhydramnios, Neonatal asphyxia...	ORPHA:141127
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Respiratory distress, Sacral dimple, Ventriculomegaly, Telecanthus, Tho...	ORPHA:480880
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dystonia, Ataxia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Seizure, Abnormality of extr...	OMIM:612199
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Pneumonia, Recurrent pneumonia, Keratoconjunctivitis, Hematuria, Follicular hyperke...	OMIM:158310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchid...	ORPHA:93271
Ramos-Arroyo Syndrome	Respiratory distress, Dacryocystitis, Xerostomia, Nasolacrimal duct obstruction, Upslanted palpeb...	ORPHA:1051
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure, Elevated circulating creatine...	OMIM:610505
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Highly arched eyebrow, Sp...	OMIM:619124
Dowling-Degos Disease	Hyperkeratosis, Hyperkeratotic papule, Penile freckling	ORPHA:79145
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy	OMIM:619183
Superficial Siderosis	Back pain, Enlarged sylvian cistern, Ataxia, Babinski sign, Abnormal pyramidal sign, Slurred spee...	ORPHA:247245
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Palmoplantar keratoderma, Conjunctivitis, Follicular hyperkerat...	OMIM:308800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Epicanthus, Abnormality of the upper urinary tract, Kyphosis, Hemivertebrae, Ab...	ORPHA:2916
Meckel Syndrome, Type 1	Short neck, Asplenia, Dandy-Walker malformation, Accessory spleen, Malformation of the hepatic du...	OMIM:249000
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ...	ORPHA:2092
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Abnormal respiratory system physiology, Short neck	ORPHA:171866
Weismann-Netter Syndrome	Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Blepharophimosis, Downslanted palp...	OMIM:300712
Acro-Renal-Mandibular Syndrome	Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae, Scoliosis, Downslanted palpebral f...	ORPHA:958
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Urinary incontin...	ORPHA:447997
Osteoglophonic Dysplasia	Respiratory distress, Telecanthus, Hypospadias, Short neck, Cryptorchidism, Platyspondyly, Chorde...	OMIM:166250
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Atlanto...	OMIM:607095
Floating-Harbor Syndrome	Speech apraxia, Broad-based gait, Small for gestational age, Hypospadias, Kyphoscoliosis, Short n...	ORPHA:2044
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Pulmonary embolism, Abnormal form of the vertebral bodies, Re...	ORPHA:744
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Kyphosis, Hydroxyprolinemia, Hypercalciuria, Hyperphosph...	OMIM:239000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Scoliosis, Webbed neck, Nephroblastoma	OMIM:612918
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Seizure	OMIM:136630
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, ...	ORPHA:1775
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Megalocornea-Intellectual Disability Syndrome	Epicanthus, Ataxia, Kyphosis, Seizure, Scoliosis, Underdeveloped supraorbital ridges, Hypercholes...	ORPHA:2479
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait, Telecanthus, Unilateral renal agenesis, Short neck, Recurren...	ORPHA:99646
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Seizure, Downslanted ...	OMIM:610536
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Cryptorchidism, Hypoplasia of the lacrimal punct...	ORPHA:2363
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar...	OMIM:146500
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Kyphosis, Inability to walk, Recurrent pneumonia, Unsteady gait, Obesity, Seizur...	OMIM:618493
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Lymphedema-Distichiasis Syndrome	Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Kyphosis, ...	OMIM:153400
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Occipital Horn Syndrome	Recurrent urinary tract infections, Kyphosis, Jaundice, Hepatitis, Cholestasis, Bladder diverticu...	ORPHA:198
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne...	OMIM:620296
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Epicanthus, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Cryptorchidism, Upslant...	OMIM:619194
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Mesomelia-Synostoses Syndrome	Telecanthus, Polyhydramnios, Downslanted palpebral fissures, Abnormal vertebral morphology, Hydro...	OMIM:600383
Cdags Syndrome	Porokeratosis, Hypospadias, Sparse eyelashes, Ectropion, Rectourethral fistula, Kyphosis, Sparse ...	OMIM:603116
Cole-Carpenter Syndrome 2	Kyphosis, Hydrocephalus, Platyspondyly, Downslanted palpebral fissures, Oligohydramnios	OMIM:616294
Magel2-Related Prader-Willi-Like Syndrome	Almond-shaped palpebral fissure, Kyphosis, Cryptorchidism, Xerostomia, Increased body weight, Sei...	ORPHA:398069
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Abnormal renal collecting system morphology, Cryptorchidi...	ORPHA:468631
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hypocal...	ORPHA:2237
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Sacral dimple, Failure to thrive, Hypospadias, A...	ORPHA:2556
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Obesity, Cystic renal dysplasia, Hydronephrosis	OMIM:615989
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Ataxia, Portal ...	OMIM:615688
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Coffin-Lowry Syndrome	Epicanthus, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Hypertonia, Gait disturbanc...	ORPHA:192
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Kyphoscoliosis, Trichiasis, Hyperkeratosis, Narrow palpebral fissure, ...	OMIM:601701
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Sacral dimple, Recurrent urinary tract infections, Epicanthu...	ORPHA:3310
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Beaki...	OMIM:619636
Reactive Arthritis	Recurrent urinary tract infections, Respiratory insufficiency, Weight loss, Hyperkeratosis, Joint...	ORPHA:29207
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Polyhydramnios, Short neck, Cryptorchidi...	OMIM:261540
Bruck Syndrome	Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Pterygium	ORPHA:2771
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Follicular hyperkeratosis	OMIM:613736
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Cryptorchidism, Seizure, Lateral ventricle dilatation, Dilated t...	OMIM:619244
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Clonus, Elevated circulating creatine kinase concentration, Tremor, C...	OMIM:619424
Wolf-Hirschhorn Syndrome	Sacral dimple, Epicanthus, Ataxia, Hypospadias, Abnormality of the kidney, Highly arched eyebrow,...	ORPHA:280
Apert Syndrome	Cryptorchidism, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Shallow orbits, Downslanted palpe...	OMIM:101200
Weaver Syndrome	Epicanthus, Bilateral tonic-clonic seizure, Kyphosis, Cryptorchidism, Slurred speech, Generalized...	OMIM:277590
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Thin skin, Scoliosi...	ORPHA:3342
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Gait disturba...	ORPHA:93256
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Cardiomegaly, Productiv...	ORPHA:95430
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Thickened skin, Hemivertebrae...	ORPHA:2062
Behçet Disease	Glomerulopathy, Renal insufficiency, Ataxia, Pulmonary embolism, Orchitis, Splenomegaly, Abnormal...	ORPHA:117
Immunodeficiency 58	Recurrent cutaneous abscess formation, Dysuria, Allergic rhinitis, Asthma, Chronic pulmonary obst...	OMIM:618131
Mend Syndrome	Sacral dimple, Telecanthus, Kyphosis, Hydrocephalus, Cryptorchidism, Elevated 8(9)-cholestenol, E...	ORPHA:401973
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy...	ORPHA:2330
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Seizure, Athetosis, Scoliosis, Apraxia, Aspiration, Spasticity	OMIM:613454
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Short neck, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis	OMIM:615225
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Incontinentia Pigmenti	Eosinophilia, Kyphoscoliosis, Leukocytosis, Hemivertebrae, Seizure, Hyperkeratosis, Spasticity	OMIM:308300
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Synophrys, Hypertonia, Thoracic kyphosis, As...	OMIM:602535
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Ataxia, Small for gestational age, Ketonuria, Increased hepatocellular...	OMIM:220111
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Nmda Receptor Encephalitis	Generalized-onset seizure, Dystonia, Involuntary movements, Oculogyric crisis, Rigidity, Focal-on...	ORPHA:217253
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Sparse eye...	OMIM:614748
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis	OMIM:607903
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, V...	ORPHA:567
Tick-Borne Encephalitis	Back pain, Speech apraxia, Elevated hepatic transaminase, Generalized-onset seizure, Incoordinati...	ORPHA:297
Werner Syndrome	Renal neoplasm, Hyperkeratosis, Aplasia/Hypoplasia of the testes, Abnormal testis morphology, Sle...	ORPHA:902
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:306400
Plague	Respiratory distress, Hepatomegaly, Edema, Splenomegaly, Lymphadenitis, Unsteady gait, Slurred sp...	ORPHA:707
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Monilethrix	Abnormal eyelash morphology, Abnormal eyebrow morphology, Follicular hyperkeratosis	ORPHA:573
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Lichen Planus Pemphigoides	Hyperkeratosis, Conjunctivitis, Blepharitis	ORPHA:254478
Sponastrime Dysplasia	Epicanthus, Lumbar hyperlordosis, Small for gestational age, Hypospadias, Kyphoscoliosis, Recurre...	ORPHA:93357
Zttk Syndrome	Absent gallbladder, Epicanthus, Broad eyebrow, Polyuria, Unilateral renal agenesis, Sparse eyebro...	OMIM:617140
Kanzaki Disease	Lymphedema, Increased urinary O-linked sialopeptides, Tortuosity of conjunctival vessels, Hyperke...	OMIM:609242
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thri...	OMIM:300972
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Synophrys, Abnormal form of the vertebral bodi...	ORPHA:3042
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Dyspnea, Vacuolat...	ORPHA:565612
Palmoplantar Keratoderma And Congenital Alopecia 1	Sparse eyebrow, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Frontorhiny	Epicanthus, Lumbar hyperlordosis, Scoliosis, Ptosis	ORPHA:391474
Frontometaphyseal Dysplasia	Urethral stenosis, Hydronephrosis, Fused cervical vertebrae, Prominent supraorbital ridges, Scoli...	ORPHA:1826
Coffin-Siris Syndrome 1	Sacral dimple, Hydroureter, Hypospadias, Thick eyebrow, Ectopic kidney, Kyphosis, Cryptorchidism,...	OMIM:135900
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Abnormal curvature of the vertebral co...	ORPHA:90348
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Asthma, Palmoplantar keratoderma	OMIM:616029
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Failure to thrive, Small for gestational age, Biliary...	ORPHA:2255
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Polyhydramnios, Per...	OMIM:618371
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Hepatomegaly, Abnormal central mot...	ORPHA:3385
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Thickened skin, Spinal canal stenosis, Scoliosis, Shallow orbits	OMIM:277600
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Epicanthus, Telecanthus, Short neck, Cryptorchidism, Kyphosis, Upslanted palpebral...	OMIM:616894
Bruck Syndrome 1	Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis, Pterygium	OMIM:259450
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Neonatal respiratory distress, Ataxia, Hyperkeratosis, Spasticity, Ptosis	OMIM:615510
Monosomy 9Q22.3	Epicanthus, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Seizure, Abnormality ...	ORPHA:77301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Myoclonus, Blepharophimosis	ORPHA:1352
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Asthma, Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbull...	OMIM:601675
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Cowden Syndrome 5	Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Seizure, Scoliosis, Intention tremor	OMIM:615108
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Scoliosis, Vesicour...	OMIM:192350
Pontocerebellar Hypoplasia Type 7	Epicanthus, Involuntary movements, Cryptorchidism, Micropenis, Upslanted palpebral fissure, Seizu...	ORPHA:284339
Branchiooculofacial Syndrome	Telecanthus, Hypospadias, Renal agenesis, Facial palsy, Hyperlordosis, Short neck, Cryptorchidism...	OMIM:113620
Peters Plus Syndrome	Ureteral duplication, Sacral dimple, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, S...	ORPHA:709
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Cryptorchidism, Asthma, Obesity, Neph...	ORPHA:353281
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Cholecystitis, He...	ORPHA:99827
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis,...	OMIM:143095
Restrictive Dermopathy 1	Ureteral duplication, Entropion, Hypospadias, Sparse eyelashes, Polyhydramnios, Kyphoscoliosis, E...	OMIM:275210
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Cardiomegaly, Sparse eyebrow, Diffuse palmoplantar hyperk...	OMIM:601214
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Small for gestational age, Kyphoscoliosis...	ORPHA:97360
Interstitial Cystitis	Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ...	ORPHA:37202
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R...	ORPHA:261537
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Recurrent pne...	ORPHA:1329
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyper...	OMIM:610644
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R...	ORPHA:2152
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Hidrotic Ectodermal Dysplasia, Halal Type	Absent eyelashes, Absent eyebrow, Follicular hyperkeratosis	ORPHA:1809
Kindler Epidermolysis Bullosa	Urethral stricture, Phimosis, Neoplasm of the urethra, Hyperkeratosis, Palmoplantar keratoderma, ...	ORPHA:2908
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Kid Syndrome	Recurrent cutaneous abscess formation, Psoriasiform dermatitis, Sparse eyelashes, Sparse eyebrow,...	ORPHA:477
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, T lymphocytopenia, Abnorm...	OMIM:618223
Cowden Syndrome 6	Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Seizure, Scoliosis, Intention tremor	OMIM:615109
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Large for gestational age, Cardiomegaly, Vesicoureteral ref...	ORPHA:116
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Hepatosplenomegaly...	OMIM:260920
Blau Syndrome	Clear cell renal cell carcinoma, Facial palsy, Splenomegaly, Dyspnea, Xerostomia, Stage 5 chronic...	ORPHA:90340
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Telecanthus, Cryptorchidism, Pneumothorax, Nephrotic syndrome, Scoliosis, Downslanted palpebral f...	OMIM:601776
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Kyphosis, Truncal obesity, Thin skin	OMIM:610489
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Periorbital edema, Splenomegaly, Abnormal ...	ORPHA:32960
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Seizure, Tracheomalacia	ORPHA:93259
2Q31.1 Microdeletion Syndrome	Epicanthus, Short neck, Kyphosis, Cryptorchidism, Synophrys, Seizure, Vertebral segmentation defe...	ORPHA:251014
Poland Syndrome	Duplicated collecting system, Hypospadias, Short neck, Renal hypoplasia/aplasia, Kyphosis, Crypto...	ORPHA:2911
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Incre...	ORPHA:77293
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, R...	ORPHA:261552
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Epicanthus, Small for gestational age, Hypospa...	OMIM:194190
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Short neck, Abnormal eyelid morphology, ...	ORPHA:647
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Entropion, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Charge Syndrome	Renal agenesis, Facial palsy, Polyhydramnios, Cryptorchidism, Hemivertebrae, Renal hypoplasia, Ho...	OMIM:214800
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Cryptorchidism, Upslanted palpebral fissure, Abdominal situs inversus	OMIM:619123
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Spasticity, Seizure, Plat...	OMIM:208400
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Poliomyelitis	Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Inability to walk, Re...	ORPHA:2912
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Trisomy 9P	Sacral dimple, Short neck, Kyphosis, Scoliosis, Downslanted palpebral fissures	ORPHA:236
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Osteogenesis Imperfecta	Neonatal respiratory distress, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Hy...	ORPHA:666
Leprosy	Absent eyebrow, Epistaxis, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Paralyt...	ORPHA:548
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Polyhydramnios, Severe hydrocephalus, Hydronephrosis, Dandy-Walker...	OMIM:236680
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity, Pancreatitis, Thin skin	OMIM:610475
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Hyperkeratosis, Keratoconjunctivitis sicca, Ichthyosis	OMIM:148210
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Restrictive Dermopathy	Thoracic kyphoscoliosis, Ureteral duplication, Telecanthus, Hypospadias, Entropion, Polyhydramnio...	ORPHA:1662
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros...	ORPHA:449432
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Dyspnea, Resp...	ORPHA:2554
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Renal cell carcinoma, Pa...	ORPHA:79501
Inhalational Anthrax	Respiratory distress, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gas...	ORPHA:247257
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D...	OMIM:203500
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Thickened skin, Spinal canal stenosis, Scoliosis, Shallow orbits	OMIM:608328
Viss Syndrome	Ptosis, Ectropion, Polyhydramnios, Kyphosis, Asthma, Pneumothorax, Hypereosinophilia, Dyspnea, Sc...	OMIM:619472
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Singleton-Merten Syndrome 2	Hyperkeratosis, Scoliosis	OMIM:616298
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hydrocephalus, Keratoconjunctivitis sicca, Downslanted palpebral fissures, Oligohydramnios	OMIM:616914
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Hypertriglyceridemia, Kyphoscoliosis, Pericardial effusion, Ky...	ORPHA:536532
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Rhiniti...	OMIM:305100
Atypical Werner Syndrome	Renal neoplasm, Hypertriglyceridemia, Glycosuria, Hyperkeratosis, Thin skin, Decreased body weigh...	ORPHA:79474
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis, Scoliosis, Nephroblast...	ORPHA:276280
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Kyphosis, Cryptorchidism, Spinal canal stenosis, Hor...	ORPHA:1724
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Lumbar hyperlordosis, Non-obstructive azoospermia, Kyphosis, Sparse ...	ORPHA:2232
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Generalized dystonia, Scoliosis	ORPHA:79107
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Cardiomegaly, Tremor, Kyphosis, Cryptorchidism, Upslanted...	OMIM:300967
Pseudoxanthoma Elasticum, Forme Fruste	Peau d'orange, Kyphosis, Scoliosis	OMIM:177850
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Cardiac Valvular Dysplasia 1	Hydroureter, Edema, Hydrops fetalis, Urethral diverticulum, Hydronephrosis	OMIM:212093
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Obesity, Scoliosis	OMIM:250420
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Short neck, Cryptorchidism, Pneumothorax, Ovoid ...	ORPHA:3404
Cole-Carpenter Syndrome	Communicating hydrocephalus, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Downslan...	ORPHA:2050
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Apnea, Tremor, Splenomegaly, Hydrocephalus, Lymphadenopathy, Hypocalcemia, Chronic ...	ORPHA:667
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Genitopatellar Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Colpocephaly, Scoliosis, Micropenis...	OMIM:606170
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Floating-Harbor Syndrome	Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis,...	OMIM:136140
Robinow Syndrome, Autosomal Dominant 1	Sacral dimple, Epicanthus, Short neck, Cryptorchidism, Upslanted palpebral fissure, Long eyelashe...	OMIM:180700
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Otopalatodigital Syndrome, Type Ii	Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Respiratory insufficiency...	OMIM:304120
Neurofibromatosis Type 1	Ataxia, Abnormality of the upper urinary tract, Abnormal eyelid morphology, Kyphosis, Hydrocephal...	ORPHA:636
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent...	OMIM:619381
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Cardiomegaly, Lymphedema	ORPHA:79280
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Ramon Syndrome	Kyphosis, Hyperkeratosis, Seizure, Scoliosis, Decreased body weight	OMIM:266270
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis	OMIM:616295
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Pneumothorax, Joint swelling, Narrow palpebral fissure, Thin skin, Foll...	OMIM:618175
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine...	OMIM:601104
15Q14 Microdeletion Syndrome	Kyphosis, Seizure, Scoliosis	ORPHA:261190
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Chromosome Xq26.3 Duplication Syndrome	Acanthosis nigricans, Kyphosis, Seizure	OMIM:300942
Stüve-Wiedemann Syndrome	Respiratory distress, Sacral dimple, Apnea, Asthma, Scoliosis, Oligohydramnios	ORPHA:3206
Auriculocondylar Syndrome	Respiratory distress, Ptosis	ORPHA:137888
Holoprosencephaly 3	Hydronephrosis, Ventriculomegaly	OMIM:142945
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, High urinary gonadotropi...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, High urinary gonadotropi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, High urinary gonadotropi...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, High urinary gonadotropi...	ORPHA:881
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Keratoconjunctivitis sicca	ORPHA:1806
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity, Thin skin	OMIM:219080
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Vulvovaginal Gingival Syndrome	Parakeratosis	ORPHA:83453
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight	ORPHA:64745
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse eyelashes, Follicular hyperkeratosis	OMIM:613102
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Seizure, Respiratory failure, Patent urachus, Failure to...	OMIM:618252
Pure Autonomic Failure	Dysuria, Urinary incontinence	ORPHA:441
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo...	OMIM:119600
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Porokeratosis, Hypospadias, Absent eyelashes, Kyphosis	ORPHA:85199
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Hypospadias, Epicanthus, Abnormal eyelash morphology, Cry...	ORPHA:286
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Recurrent pneumonia, Palmoplantar keratoderma, Follicular hyperkeratosis, Dif...	ORPHA:158668
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
17Q11 Microdeletion Syndrome	Abnormal central motor function, Kyphosis, Focal-onset seizure, Thickened skin, Renovascular hype...	ORPHA:97685
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Sparse lateral eyebrow	OMIM:617337
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Dyspnea, Pedal edema...	ORPHA:75565
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Multicystic kidney dysplasia, Kyphosis, Webbed neck, Tracheomalacia	ORPHA:1393
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Pulmonary embolism, Kyphosis, Hemiplegia/hemiparesis...	ORPHA:394
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Sparse eyebrow, Palmoplantar hyperkeratosis, Follicular ...	OMIM:257980
Aortic Arch Interruption	Respiratory distress, Tachypnea, Pedal edema, Left ventricular hypertrophy, Exertional dyspnea	ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Hydrocephalus, Seizure, Myoclonus, Spasticity...	OMIM:253280
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:607778
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Facial palsy, Abnormal nasolacrimal system morphology, Ky...	ORPHA:2658
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis	OMIM:619718
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hypospadias, Hydroureter, Kyphoscoliosis, Renal hypoplasia/aplasia, Cryptor...	OMIM:309800
Focal Dermal Hypoplasia	Ureteral duplication, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Bifid ureter, Scoliosis, S...	OMIM:305600
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Scimitar Syndrome	Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria...	ORPHA:185
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Epicanthus, Kyphosis, Synophrys, Bilateral ptosis, Scoliosis	OMIM:619557
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Seizure, Hyperuricemia, Scoliosis, Thick eyebrow	ORPHA:2769
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Osteogenesis Imperfecta, Type Vii	Vertebral compression fracture, Hydronephrosis, Scoliosis	OMIM:610682
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Pericardial effusion, Cryptorchidism, Hepatopulmonar...	OMIM:618280
Rodrigues Blindness	Nasal flaring	OMIM:268320
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Coffin-Lowry Syndrome	Telecanthus, Thick eyebrow, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Seizure, Prominent ...	OMIM:303600
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum	ORPHA:493
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Cachexia, Scoliosis, Ptosis	ORPHA:1969
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Stickler Syndrome	Epicanthus, Telecanthus, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnor...	ORPHA:828
Pudendal Neuralgia	Back pain, Pollakisuria, Dysuria	ORPHA:60039
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Scoliosis	OMIM:118650
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis, Psoriasiform dermatitis	OMIM:106300
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Downslanted...	OMIM:249420
Primrose Syndrome	Epicanthus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Bilateral cryptorchidis...	OMIM:259050
Marfan Syndrome	Spontaneous pneumothorax, Cachexia, Kyphosis, Downslanted palpebral fissures, Scoliosis, Emphysem...	ORPHA:558
Yunis-Varon Syndrome	Epicanthus, Small for gestational age, Anterior concavity of thoracic vertebrae, Polyhydramnios, ...	OMIM:216340
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Focal impaired awareness seizure, Scoliosis, Biconcave v...	OMIM:259770
Isolated Arrhinia	Respiratory distress, Eyelid coloboma	ORPHA:1134
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg...	ORPHA:99125
Wrinkly Skin Syndrome	Epicanthus, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive, Downslanted palpebral fissures	OMIM:278250

Histopathology

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

There is no histopathology data for Neu1

IMPC related publications

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

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

Title	Journal	IMPC Allele	PubMed ID
The Janus-like role of neuraminidase isoenzymes in inflammation.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (May 2022)	Neu1^{tm1a(EUCOMM)Wtsi}	PMC9323473
Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission.	JCI insight (August 2021)	Neu1^{tm1a(EUCOMM)Wtsi}	PMC8410035
Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2017)	Neu1^{tm1a(EUCOMM)Wtsi}	28442549

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Neu1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Neu1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Neu1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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