Gene Summary

Name:
bone morphogenetic protein 6
Synonyms:
D13Wsu115e,  Vgr1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin concentration Bmp6em1(IMPC)Ccpcz HOM Early adult 8.90×10-05
abnormal pancreas morphology Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
decreased locomotor activity Bmp6em1(IMPC)Ccpcz HOM   Early adult 4.01×10-05
kyphosis Bmp6em1(IMPC)Ccpcz HOM   Early adult 3.58×10-06
abnormal salivary gland morphology Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Bmp6em1(IMPC)Ccpcz HOM   Early adult 7.36×10-05
increased circulating alanine transaminase level Bmp6em1(IMPC)Ccpcz HOM Early adult 2.37×10-19
abnormal spine curvature Bmp6em1(IMPC)Ccpcz HOM   Early adult 6.58×10-06
increased circulating iron level Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
increased mean corpuscular hemoglobin Bmp6em1(IMPC)Ccpcz HOM Early adult 2.59×10-12
increased hemoglobin content Bmp6em1(IMPC)Ccpcz HOM Early adult 1.39×10-10
increased circulating aspartate transaminase level Bmp6em1(IMPC)Ccpcz HOM Early adult 1.67×10-05
increased brain size Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
decreased startle reflex Bmp6em1(IMPC)Ccpcz HOM Early adult 9.56×10-05
increased thigmotaxis Bmp6em1(IMPC)Ccpcz HOM   Early adult 9.42×10-05
decreased body weight Bmp6em1(IMPC)Ccpcz HOM   Early adult 4.76×10-06
decreased heart rate Bmp6em1(IMPC)Ccpcz HOM Early adult 2.35×10-05
abnormal skin morphology Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Bmp6em1(IMPC)Ccpcz HOM Early adult 0.00
increased mean corpuscular volume Bmp6em1(IMPC)Ccpcz HOM Early adult 2.09×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Hind Leg and Hip

34 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

Human diseases caused by Bmp6 mutations

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

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

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

The table below shows human diseases predicted to be associated to Bmp6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Hyperbilirubinemia, Increased tota... ORPHA:98870
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Abnormality of the liver, Lethargy, Neutropenia, Failure to th... ORPHA:2169
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Abnormal hemoglobin, Thromb... ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Mitral regurgitation, Failure to thrive, Increased mean corpuscular... OMIM:612561
Intrinsic Factor Deficiency
Absence of intrinsic factor, Megaloblastic anemia, Increased mean corpuscular volume, Malabsorpti... OMIM:261000
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 33
Scoliosis, Decreased body weight, Hyperactivity OMIM:616311
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Dystonia, Megaloblastic anemia, Methylmalonic acidemia, Lethargy, Increased ... OMIM:277410
Diamond-Blackfan Anemia 8
Neutropenia, Thick upper lip vermilion, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Splenomegaly, Conjug... OMIM:616860
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Congestive heart failure, Decreased serum... ORPHA:48818
16Q24.3 Microdeletion Syndrome
High palate, Dilated cardiomyopathy, Solitary median maxillary central incisor, Kyphosis, Long ph... ORPHA:261250
Al Amyloidosis
Abnormal salivary gland morphology, Abnormality of the liver, Postural hypotension with compensat... ORPHA:85443
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, E... ORPHA:90044
Intellectual Developmental Disorder, Autosomal Dominant 52
Cryptorchidism, Anxiety, Hyperactivity OMIM:617796
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Neutropenia, Anemia, Increased mean corpuscular volume, Pe... OMIM:618849
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, De... ORPHA:811
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Chronic hepati... ORPHA:231226
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Kyphosis, Gait disturbance OMIM:611225
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Congestive heart failure, Abnormal aggressive, impulsive or viole... ORPHA:3077
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Abnormality of... ORPHA:231214
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Congestive heart failure, Hepatomegaly, Failure to thrive, Decreased plasma fr... OMIM:619048
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Lethargy, Failure to thrive, Hemolytic anemia, Reticulocytosis, ... OMIM:611590
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hy... OMIM:212138
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Difficulty walking OMIM:617087
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... ORPHA:848
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, High-outpu... ORPHA:231222
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Kyphosis, Short neck, Hyperlordosis, Elevated circulating creatine kinase... OMIM:300718
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity OMIM:616657
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Bradycardia, Splenomegaly, Hyperlordosis, Hepatomegaly, Elevated circul... OMIM:613327
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Idiopathic Congenital Hypothyroidism
Macroglossia, Lethargy, Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hor... ORPHA:95717
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia, Dystonia, Tremor OMIM:617248
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Sandhoff Disease
Kyphosis, Congestive heart failure, Splenomegaly, Hepatomegaly, Ataxia, Failure to thrive ORPHA:796
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Retinal hemorrhage, Acute myeloid leuke... ORPHA:86839
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Scoliosis, Hypertrophic cardiomyopathy OMIM:616276
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypertrophic cardiomyopathy, Elevated circulating crea... OMIM:618775
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia, Increased total bilirubin OMIM:616299
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Congestive heart failure, Splenomegaly, Elevated tr... OMIM:613313
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Thick lower lip vermilion, Aggressive behavior, Failure t... OMIM:618362
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Diamond-Blackfan Anemia 7
Neutropenia, Scoliosis, Increased mean corpuscular volume, Macrocytic anemia, Esophagitis, Cleft ... OMIM:612562
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Long philtrum, Intention tremor, Thick lower lip vermilion, Failure to thrive, Atrioven... OMIM:614407
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia, Depression OMIM:602079
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Oligodontia, Obesity, Everted lower lip vermilion, Scoliosis, Bipolar affective disorde... ORPHA:276630
Neuroleptic Malignant Syndrome
Excessive salivation, Hypertension, Hypomagnesemia, Thrombocytopenia, Tremor, Drooling, Arrhythmi... ORPHA:94093
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Kyphosis, Obesity, Inability to walk, Ataxia, Lumbar hyperlordosis, Scoliosis, Waddling... OMIM:616756
Blackfan-Diamond Anemia
High palate, Leukopenia, Short neck, Small for gestational age, Thrombocytosis, Cleft soft palate... ORPHA:124
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia, Hyperalaninemia OMIM:614654
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Failure to thrive, Erythroid hyperplasia, Decreased mean c... OMIM:609628
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Shock, Peritonitis, Hypotension, Lethargy,... ORPHA:391673
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Reduced ejection fraction, Abnormalit... ORPHA:314652
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Bradycardia, Decreased thyroid-stimulating hormone level, Increased circula... ORPHA:90674
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Small for gestational age ORPHA:85288
Familial Thyroid Dyshormonogenesis
Bradycardia, Macroglossia, Lethargy, Prolonged neonatal jaundice, Elevated circulating thyroid-st... ORPHA:95716
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Persistence of hemogl... OMIM:613673
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Chromosome 3Q29 Deletion Syndrome
Short philtrum, Small for gestational age, Anxiety, Hyperactivity, Aggressive behavior, Gait atax... OMIM:609425
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Short philtrum, Decreased body weight, Open mouth, Hypodontia, Everted lower lip ver... OMIM:618342
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive,... OMIM:618234
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Long philtrum, Anemia, Scoliosis ORPHA:2598
Ck Syndrome
High palate, Kyphosis, Slender build, Hyperactivity, Hyperlordosis, Aggressive behavior, Scoliosi... OMIM:300831
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Hyperglycinemia, Impulsivity OMIM:605899
Neuronopathy, Distal Hereditary Motor, Type Viii
Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevat... OMIM:606069
Sepsis In Premature Infants
Decreased body weight, Leukocytosis, Small for gestational age, Elevated circulating C-reactive p... ORPHA:90051
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Arrhythmia, Congestive hear... OMIM:602390
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Timothy Syndrome
Hypocalcemia, Microdontia, Prolonged QT interval, Bradycardia, Thin upper lip vermilion OMIM:601005
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Waddling gait, Small for gestational age, Kyphosis OMIM:618392
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Decreased body weight, Leukopenia, Weight loss, Polycystic ov... ORPHA:2298
Bethlem Myopathy 2
Elevated circulating creatine kinase concentration, Scoliosis, Kyphosis OMIM:616471
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Kyphosis, Everted lower lip vermilion, Truncal obesity, Scoliosis, Gait disturban... ORPHA:2429
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism, Self-injurious behavior, Anxiety, Aggressive behavior, Prolonged neonat... OMIM:618512
Ck Syndrome
High palate, Slender build, Hyperactivity, Aggressive behavior, Lumbar hyperlordosis, Irritabilit... ORPHA:251383
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Glossopharyngeal Neuralgia
Tongue pain, Abnormal palate morphology, Abnormality of the cervical spine, Jaw claudication, Anx... ORPHA:221098
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Narrow mouth, Short philtrum, Kyphosis, Long philtrum, Abnormality of the dentition, Obesity, Ina... OMIM:618443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Hepatomegaly, Ataxia, Hypertriglyceridemia, Tremor OMIM:615924
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101075
Intellectual Developmental Disorder, Autosomal Dominant 57
Narrow mouth, High palate, Kyphosis, Anxiety, Scoliosis, Tip-toe gait, Attention deficit hyperact... OMIM:618050
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia OMIM:618453
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irrita... ORPHA:248111
Stiff-Person Syndrome
Opisthotonus, Anxiety, Anemia, Lumbar hyperlordosis, Hypertension, Exaggerated startle response, ... OMIM:184850
Cdkl5-Deficiency Disorder
Kyphosis, Deep philtrum, Everted lower lip vermilion, Inappropriate laughter, Scoliosis, Gait dis... ORPHA:505652
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Elevated transferrin satura... ORPHA:79230
Tetanus
Opisthotonus, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tach... ORPHA:3299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Gait disturbance, Bradycardia, Premature ovarian insufficiency, Depre... OMIM:609286
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Congestive hear... ORPHA:139507
Sternum, Premature Obliteration Of Sutures Of
Short sternum OMIM:184800
Intellectual Developmental Disorder, X-Linked 104
High palate, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:300983
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Obesity, Hyperlordosis, Tip-toe gait, Sudden cardiac death, Gai... ORPHA:98855
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Dystonia, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepat... OMIM:618278
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypokalemia, Elevated circulating creatinine concentration, Aggressiv... ORPHA:99826
Combined Oxidative Phosphorylation Defect Type 39
Drooling, Cryptorchidism, Loss of ability to walk, Open mouth, Leg dystonia, Scoliosis, Tip-toe g... ORPHA:565624
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Perlman Syndrome
Broad alveolar ridges, Cryptorchidism, Open mouth, Abnormal pancreas morphology, Hepatomegaly, Hi... ORPHA:2849
X-Linked Emery-Dreifuss Muscular Dystrophy
Short neck, Kyphosis, Obesity, Hyperlordosis, Tip-toe gait, Hypertrophic cardiomyopathy, Gait dis... ORPHA:98863
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:101078
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Long philtrum, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive beh... OMIM:619467
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Dystonia, Short neck, Kyphosis, Cryptorchidism, Inability to walk, Scoliosis, Diffic... OMIM:611890
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Illum Syndrome
Pierre-Robin sequence, Excessive salivation, Calcinosis, Whistling appearance, Bradycardia OMIM:208155
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Obesity, Hyperlordosis, Tip-toe gait, Hypertrophic cardiomyopat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Kyphosis, Obesity, Hyperlordosis, Tip-toe gait, Hypertrophic cardiomyopat... ORPHA:98853
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Glutamine Deficiency, Congenital
Bradycardia, Thin vermilion border, Hypoglutaminemia, Hyperammonemia OMIM:610015
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Maternal hyperphenylalaninemia, Self-m... OMIM:261600
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Mood swings, Cryptorchidism, Hyperactivity, Thick lower lip vermilion, Decreased testic... OMIM:300354
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Hyperlordosis, Macroglossia, Elevated circulating creatine kinase concentration, Scolio... OMIM:606612
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatrem... ORPHA:91355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Kyphosis, Abnormal left ventricular function, Hyperlordosis, Macroglossia... OMIM:607155
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276575
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity, Long upper lip, Thick vermilion border OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hyperactivity OMIM:300434
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal... ORPHA:449432
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Loss of ability to walk, Elevated circulating creatine kinase concentration, S... OMIM:616812
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Kyphosis, Inability to walk, Gait ataxia, Failure to thrive, Scoliosis, Abno... OMIM:617988
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Bradycardia, Macroglossia, Prolonged neonatal jaundice, Elevated circu... ORPHA:226313
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Blepharospasm, Aceruloplasmin... OMIM:604290
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Hypermanganesemia With Dystonia 1
Dystonia, Bradykinesia, Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total iron bind... OMIM:613280
Romano-Ward Syndrome
Sinus bradycardia, Hypokalemia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Hyperpep... OMIM:615745
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Elevated jugular venous pressu... ORPHA:465508
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Kyphosis, Decreased testicular size, Gait disturbance ORPHA:1875
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Kyphosis, Arrhythmia, Elevated circulating creatine kinase concentration,... OMIM:615084
Acquired Methemoglobinemia
Arrhythmia, Anxiety, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atypical Rett Syndrome
Dystonia, Kyphosis, Pill-rolling tremor, Loss of ability to walk, Inability to walk, Inappropriat... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Limb ataxia OMIM:610743
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Euthyroid goiter, Abnormality of the pituitary gland, Hypocalcemia, Retro... ORPHA:64744
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Leukopenia, Resting tremor, Leukocytosis, Shock, Anxiety, Elevated ci... ORPHA:319213
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Thick vermilion border, Kyphosis, Small for gestational age, Hypera... OMIM:615834
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microdontia... OMIM:234250
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Macroglossia, Lethargy, Prolonged neonatal jaundice, E... ORPHA:90673
Intellectual Developmental Disorder, Autosomal Recessive 61
High palate, Conical tooth, Hyperactivity, Aggressive behavior, Scoliosis OMIM:617773
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Open mouth, Hyperactivity, Everted lower lip vermilion, Widely spaced teeth, Unst... OMIM:617865
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Leukocytosis, Short neck, Hyperactivity, Splenomegaly, Ataxia, Tented u... OMIM:615673
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Decreased body weight, Cleft upper lip, Hyperactivity, Aggressive behavior, Scoliosi... OMIM:300958
Winchester Syndrome
Kyphosis, Gingival overgrowth OMIM:277950
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Everted lower lip vermilion, Elevated circulating creatine kinase concentration, Scolio... OMIM:300280
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Kyphosis, Small for gestational age, Cryptorchidism, Hyperactivity,... ORPHA:352490
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Abnormality of the dentition, Hyperactivity, Aggressive behavior, Kyphoscoliosis, Scoliosis, Irri... ORPHA:391307
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Short neck, Kyphosis, Elevated circulating creatine kinase concentrat... ORPHA:75840
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Arrhythmia, Abnormal circulating lipid concentration, Microdontia, Obesity,... ORPHA:3191
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Kyphosis, Ataxia, Scoliosis, Gait disturbance, Cleft palate ORPHA:85317
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Cervical spinal canal stenosis, Cryptorchidism, Obe... OMIM:301900
Intellectual Developmental Disorder, Autosomal Dominant 43
Narrow mouth, Anxiety, Hyperactivity, Impulsivity OMIM:616977
Alazami-Yuan Syndrome
Narrow mouth, High palate, Long philtrum, Cryptorchidism, Hyperactivity, Dental crowding, Thin up... OMIM:617126
Lopes-Maciel-Rodan Syndrome
Dystonia, Kyphosis, Bradykinesia, Unsteady gait, Scoliosis, Tremor OMIM:617435
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Chronic hemolytic anemia, Elliptocytosis, Decreased me... OMIM:617948
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Kyphosis OMIM:609384
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Short neck, Cryptorchidism, Hyperactivity, Tented upper lip vermilion, Macrocyti... OMIM:614294
Triosephosphate Isomerase Deficiency
Cholelithiasis, Dystonia, Normocytic anemia, Kyphosis, Congestive heart failure, Cholecystitis, S... OMIM:615512
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Decreased circulating ferritin concentration, Abnormal blood inorganic c... ORPHA:309854
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait, Tremor OMIM:619470
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Thick vermilion border ORPHA:100973
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Opisthotonus, Pulmonary arterial hypertension, Failure to thrive, Bradycardia OMIM:619272
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:612716
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Kyphosis, Open bite, Cryptorchidism, Scoliosis, Cache... ORPHA:2471
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:485350
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Kyphosis, Obesity, Ataxia, Unsteady gait, Scoliosis, Waddling gait, Downturned corners ... ORPHA:464282
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, High palate, Kyphosis, Short neck OMIM:618393
Clark-Baraitser Syndrome
High palate, Long philtrum, Hyperactivity, Obesity, Aggressive behavior, Downturned corners of mo... OMIM:617752
Castleman Disease
Elevated circulating C-reactive protein concentration, Jaundice, Anemia, Restrictive cardiomyopat... ORPHA:160
Yellow Fever
Acute pancreatitis, Leukocytosis, Elevated circulating creatinine concentration, Reduced ejection... ORPHA:99829
Baralle-Macken Syndrome
Dystonia, Kyphosis, Obesity, Inability to walk, High, narrow palate OMIM:619255
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Tongue fasciculations, Testicular dysgenesis, Bradycardia OMIM:608800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Increased C-peptide level, Hypertrophic cardiomyopathy, Hepatomegaly, ... ORPHA:276580
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Dental malocclusion, Hyperactivity, Aggressive behavior OMIM:615541
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Bradycardia, Third degree atrioventricular block, Hypoplasia of... ORPHA:40366
Hemifacial Atrophy, Progressive
Tongue atrophy, Kyphosis, Delayed eruption of teeth, Ataxia, Dental malocclusion, Short mandibula... OMIM:141300
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia, Long philtrum, Short neck, Kyphosis, Cryptorchidism, Self-inju... ORPHA:254346
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Mildly elevated creatine kinase, Hyperlordosis, High, narrow palate, Failure to thrive,... ORPHA:536516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Drooling, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to wal... OMIM:618718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Drooling, Hyperactivity, Obesity, Ataxia, Inappropriate laughter, Broad-based gai... ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Dystonia, Hypertrophic cardiomyopathy, Failure to thrive, Irritability OMIM:618237
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Scoliosis, Oral cleft, Broad-based gait ORPHA:457260
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:324575
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Abnormality o... OMIM:231100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Kyphosis, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Impulsivity ORPHA:500180
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated... ORPHA:247585
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Pseudo-Torch Syndrome 2
Bradycardia, Hepatomegaly, Lethargy, Cerebral hemorrhage, Thrombocytopenia OMIM:617397
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, S... OMIM:252605
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, Short neck, Cryptorchidism, HbH hemoglobin, Failure to thrive ORPHA:98791
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor ORPHA:99014
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Ataxia ORPHA:31
Melioidosis
Parotitis, Hepatitis, Abnormality of the spleen, Liver abscess, Abnormal parotid gland morphology... ORPHA:31202
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Hypercholesterolemia, Hyperactivity, Scoliosis, Self-mutilation, Ev... OMIM:182290
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Short neck, Small for gestational age, Cryptorchidism, ... OMIM:123450
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Masa Syndrome
Hyperlordosis, Kyphosis, Shuffling gait OMIM:303350
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Short neck, Hyperactivity, Aggressive behavior, Elevated circulating creatine kinase... OMIM:616809
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Kyphosis, Long philtrum, Hypercalcemia, Eruption failure, Aggressive behavior, Gait ... ORPHA:476126
Aapoaiv Amyloidosis
Sinus bradycardia, Hyperlipidemia, Elevated circulating creatinine concentration, Atrial flutter,... ORPHA:439232
Alpha-Mannosidosis
Short neck, Kyphosis, Open bite, Widely spaced teeth, Splenomegaly, Hepatomegaly, Macroglossia, S... ORPHA:61
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elevated circulating creatine kinase concentration, Kyphosis, Waddling gait OMIM:618138
Kleefstra Syndrome 2
Bifid uvula, Kyphosis, Self-injurious behavior, Everted lower lip vermilion, Scoliosis OMIM:617768
Pelger-Huet Anomaly
Median cleft palate, Kyphosis, Giant platelets, Abnormality of neutrophils, Neutropenia, Failure ... OMIM:169400
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased QRS voltage, Kyphosis, Prolonged QT... OMIM:619040
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Lip discoloration, Limb dystonia, Methemoglobinemia ORPHA:621
Stiff Person Spectrum Disorder
Anxiety, Agoraphobia, Emotional lability, Lumbar hyperlordosis, Exaggerated startle response, Fal... ORPHA:3198
X-Linked Intellectual Disability, Cabezas Type
High palate, Short philtrum, Short neck, Kyphosis, Open bite, Hyperactivity, Obesity, Decreased t... ORPHA:85293
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Long philtrum, Drooling, Sacral dimple, Hyperlordosis, Scoliosis, Dental crowding, Smoo... OMIM:615761
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Decreased heart rate variability, Decreased body weight, Kyphosis, Cryptorchidism, H... OMIM:619005
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Kyphosis, Arrhythmia, Elevated circulating creatine kinase concentration,... ORPHA:352447
Intellectual Developmental Disorder, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Short neck, Hyperactivity, Truncal obesity, Smooth philtrum, Dow... OMIM:613192
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Maxillary lateral... OMIM:300602
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Abnormality of dental morphology, Fused cervical vertebrae, ... ORPHA:2522
Proximal Spinal Muscular Atrophy
Thoracic kyphosis, Inability to walk, Scoliosis, Tongue fasciculations, Bradycardia, Difficulty w... ORPHA:70
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity, Thick vermilion border ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity, Thick vermilion border OMIM:300979
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Small for gestational age, Hyperactivity, Failure to thrive, De... OMIM:610883
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Enlarged lacrimal glands, Thrombocytopenia, Retroperitoneal f... ORPHA:79078
Igg4-Related Kidney Disease
Eosinophilia, Pericarditis, Sclerosing cholangitis, Decreased retinol-binding protein level, Elev... ORPHA:449395
Landau-Kleffner Syndrome
Anxiety, Hyperactivity, Steppage gait, Aggressive behavior, Gait ataxia, Emotional lability, Depr... ORPHA:98818
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Self-injurious behavior, Anxiety, Hyp... OMIM:271980
Pediatric-Onset Graves Disease
Sinus tachycardia, Mood swings, Congestive heart failure, Hyperactivity, Splenomegaly, Hepatomega... ORPHA:525731
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Abnormality of the dentition, Scoliosis, Kyphosis ORPHA:1548
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Short neck, Long philtrum, Cryptorchidism, Supernumerary nipple, Obesity, HbH hemogl... OMIM:141750
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Kyphosis, Blepharospasm, Hyperlordosis, Scoliosis, Torticollis, Depression, Wri... OMIM:128100
Gm1-Gangliosidosis, Type Iii
Kyphosis, Dystonia, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis OMIM:230650
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Failure to thr... OMIM:248800
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Hyperactivity, Ataxia, Limb dystonia, Hepatomegaly, Gait ataxia, Hypertension,... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Small for gestational age, Failure to thrive in infancy, Hyperactivity, Thick low... OMIM:614104
Schaaf-Yang Syndrome
Kyphosis, Failure to thrive in infancy, Cryptorchidism, Open mouth, Abnormality of the philtrum, ... OMIM:615547
Sialidosis Type 2
Kyphosis, Splenomegaly, Hepatomegaly, Ataxia, Tremor ORPHA:87876
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Maxillary lateral... OMIM:300431
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Kyphosis, Limb dystonia ORPHA:319199
4Q21 Microdeletion Syndrome
Short philtrum, Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Abnormality of the dent... ORPHA:238750
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor, Ataxia, Scoliosis ORPHA:48431
Postencephalitic Parkinsonism
Happy demeanor, Kyphosis, Resting tremor, Oculogyric crisis, Open mouth, Abnormal aggressive, imp... ORPHA:97349
Ullrich Congenital Muscular Dystrophy 1
High palate, Kyphosis, Slender build, Mildly elevated creatine kinase, Failure to thrive, Scolios... OMIM:254090
Rett Syndrome
Abnormal T-wave, Dystonia, Kyphosis, Abnormality of the dentition, Gait apraxia, Gait ataxia, Sco... OMIM:312750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Small... ORPHA:26793
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Kyphosis, Open bite, Cryptorchidism, Carious teeth, Scoliosis, Congen... ORPHA:2617
X-Linked Creatine Transporter Deficiency
Ileus, Dystonia, Abnormal circulating creatine concentration, Open mouth, Hyperactivity, Athetosi... ORPHA:52503
Gand Syndrome
Short philtrum, Hyperactivity, Inappropriate laughter, Thin upper lip vermilion, Wide mouth OMIM:615074
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Protruding tongue, Drooling, Hyperactivity, Obesity, Widely spaced teeth, Ataxia,... ORPHA:98794
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Ovoid vertebral bodies, Small for gestational ag... OMIM:260400
Distal 16P11.2 Microdeletion Syndrome
Narrow mouth, Kyphosis, Obesity, Aganglionic megacolon, Hyperuricemia, Attention deficit hyperact... ORPHA:261222
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Deep philtrum, Macroglossia, Gingival overgrowth, Thick vermilion border OMIM:616455
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Kyphosis, Head tremor, Upper limb dysmetria, Scoliosis, Limb dysmetria OMIM:614409
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Srd5A3-Cdg
Microcytic anemia, Abnormal sacrum morphology, Kyphosis, Ataxia, Decreased response to growth hor... ORPHA:324737
Gm1 Gangliosidosis
Dystonia, Long philtrum, Macroglossia, Scoliosis, Tremor, Narrow mouth, Congestive heart failure,... ORPHA:354
16P12.1P12.3 Triplication Syndrome
Thin vermilion border, Nail-biting, Long philtrum, Anxiety, Hyperactivity, Tachycardia, High, nar... ORPHA:485405
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Polycythemia ORPHA:90042
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Obesity, Aggressive behavior, Smooth philtrum, Thin upper lip vermilion, ... OMIM:301013
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Trichohepatoenteric Syndrome 1
Bifid uvula, Long philtrum, Cholestasis, Abnormality of iron homeostasis, Villous atrophy, Narrow... OMIM:222470
Benign Schwannoma
Abnormality of the liver, Intestinal polyposis, Allodynia, Abnormal parotid gland morphology, Abn... ORPHA:252164
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Leukopenia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:50918
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Dilated cardiomyopathy, Decreased serum zinc, Decreased body weight, Decreased seru... ORPHA:89842
Intellectual Developmental Disorder, X-Linked 30
High palate, Drooling, Open mouth, Anxiety, Hyperactivity, Thick upper lip vermilion, Aggressive ... OMIM:300558
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Scoliosis, Kyphosis, Small for gestational age OMIM:618484
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Open mouth, Anxiety, Obesity, Tented upper lip vermilion, Ataxia, Aggressive behavior, Hyperactiv... OMIM:618430
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hypokalemia, Macronodular cirrhosis, Anemia, Med... ORPHA:699
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Angelman Syndrome
Drooling, Paroxysmal bursts of laughter, Hyperactivity, Widely spaced teeth, Obesity, Macroglossi... OMIM:105830
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Oligodontia, Hyperactivity, Obesity, Kyphoscoliosis, Failure to thrive, Self-muti... ORPHA:412035
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Kyphosis, Long philtrum, Cryptorchidism, Intestinal malrotation, Anxiety, Abnormal o... ORPHA:404440
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Congestive heart failure, Telangiectasi... OMIM:235200
Bohring-Opitz Syndrome
Cholelithiasis, Happy demeanor, Bradycardia, Inability to walk, Cleft lip, Severe failure to thri... ORPHA:97297
Crisponi Syndrome
Narrow mouth, High palate, Kyphosis, Long philtrum, Sudden cardiac death, Scoliosis ORPHA:1545
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Cardiogenic shock, Gingival bleeding, Hypotension, Thrombocytopeni... ORPHA:449285
Zimmermann-Laband Syndrome 3
High palate, Bifid uvula, Kyphosis, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Typical Nemaline Myopathy
High palate, Short neck, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concentrat... ORPHA:171436
15Q24 Microdeletion Syndrome
Narrow mouth, Abnormal palate morphology, Kyphosis, Long philtrum, Small for gestational age, Cry... ORPHA:94065
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Narrow mouth, Hepatic steatosis, Kyphosis, Cryptorchidism, Hepatomegaly, Scoliosis, Dental crowdi... OMIM:615381
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Jaundice, Spherocytosis, Hy... ORPHA:71275
Sialidosis Type 1
Kyphosis, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Splenomegaly, Ataxia,... ORPHA:812
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Aortic regurgitation, High, narrow palate, Scoliosis, Gait disturbance ORPHA:2181
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the anterior pituitary, Colon cancer, Enlarged lacrimal glands, Orch... ORPHA:449563
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Graves Disease, Susceptibility To, 1
Congestive heart failure, Hyperactivity, Irritability, Goiter, Weight loss OMIM:275000
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Myoclonic-Astatic Epilepsy
Long philtrum, Hyperactivity, Thick lower lip vermilion, Ataxia, Unsteady gait, Wide mouth, Broad... ORPHA:1942
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Alg1-Cdg
Kyphosis, Scoliosis, Cardiomyopathy, Hypoalbuminemia, Protein-losing enteropathy ORPHA:79327
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Kyphosis, Short neck, Cryptorchidism, Scoliosis ORPHA:178148
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Vacuolated lymphocyte... OMIM:230500
Congenital Disorder Of Glycosylation, Type Il
Short neck, Hepatosplenomegaly, Long philtrum, Kyphosis, Hepatomegaly, Failure to thrive, Wide mouth OMIM:608776
Mend Syndrome
High palate, Kyphosis, Cryptorchidism, Hyperactivity, Aortic valve stenosis OMIM:300960
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Normocytic anemia, Hyperechogenic pancreas, Hepat... OMIM:617941
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Hyperactivity, Carious teeth, Increased overbite, Dental mal... OMIM:613684
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Cryptorchidism, Hypodontia, M... ORPHA:2363
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormal salivary gland morphology, Enlarged lacrimal glands, Splenomegaly, Hepatom... OMIM:181000
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Ataxia, Aggressive behavior, Unsteady gait,... ORPHA:228360
Myopathy, Centronuclear, 2
High palate, Kyphosis, Hyperlordosis, Scoliosis, Waddling gait OMIM:255200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Hepatic steatosis, Kyphosis, Thrombocytosis, Ataxia, Hepatomegal... OMIM:212065
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Dental malocclusion, Kyphosis, Scoliosis ORPHA:1858
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Scoliosis, Abnor... ORPHA:2635
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Kyphosis, Vertebral compression fracture, Obesity, Emotional lability, Hypertension,... OMIM:219090
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Thick vermilion border, Short philtrum, Kyphosis, Long philtrum, Oligodontia, Self-i... OMIM:617061
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Polycystic ovaries, Cryptorchidism, Obesity, Hyperlordosis, Decreased testicular size ORPHA:3085
Porphyria Variegata
Ileus, Abnormality of the liver, Hyponatremia, Anxiety, Back pain, Anemia, Hypertension, Tachycar... ORPHA:79473
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short neck, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Panhypopituitarism, Hypop... ORPHA:226307
Choreoacanthocytosis
Aggressive behavior, Apathy, Hair-pulling, Depression, Socially inappropriate behavior, Hyperacti... ORPHA:2388
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia, HbH hemogl... OMIM:301040
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Platyspondyly OMIM:313420
Frank-Ter Haar Syndrome
Short philtrum, Thick vermilion border, Kyphosis, Delayed eruption of teeth, Beaking of vertebral... ORPHA:137834
Fragile X Syndrome
Self-biting, Congenital macroorchidism, Hyperactivity, Scoliosis, Macroorchidism, postpubertal OMIM:300624
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Self-injurious behavior, Everted lower lip vermilion, Tented upper lip vermilion,... ORPHA:847
Blau Syndrome
Abnormal salivary gland morphology, Abnormality of the liver, Splenomegaly, Pulmonary arterial hy... ORPHA:90340
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Cryptorchidism, Open mouth, Self-injurious behavior, Everted lower... ORPHA:228402
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Open mouth, High palate, Bradycardia, Tachycardia OMIM:614653
Schwartz-Jampel Syndrome
Abnormally straight spine, Long philtrum, Everted lower lip vermilion, Scoliosis, Cleft palate, D... ORPHA:800
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Short philtrum, Kyphosis, Slender build, Cryptorchidism, Open mouth, Aggressive ... ORPHA:364028
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia, Unsteady gait OMIM:300861
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, T... ORPHA:90037
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High palate, Kyphosis, High, narrow palate OMIM:248760
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Mucopolysaccharidosis, Type Iiid
Broad alveolar ridges, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Drooling, H... OMIM:252940
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Macronodular adrenal hyperplasia, Anxiety, Truncal obesity, Emotional lability, Hyperte... OMIM:219080
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Copper Deficiency, Familial Benign
Anemia, Failure to thrive, Decreased circulating copper concentration, Abnormal circulating coppe... OMIM:121270
Hypomelanosis Of Ito
Scoliosis, Thick lower lip vermilion, Irregularly spaced teeth, Kyphosis OMIM:300337
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Palpitations, Goiter, Tachycardia, Weight loss OMIM:188580
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Long philtrum, Hyperactivity, Inability to walk, Aggressive behavio... OMIM:103050
Encephalitis Lethargica
Bradycardia, Lethargy, Tremor ORPHA:83600
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Macroglossia, Lethargy, Hyperbilirubinemia, Elevated circulating thyroid-stimulating... OMIM:218700
Weismann-Netter Syndrome
Anemia, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Kyphosis, Vertebral compression fracture, Biliary tract obstruction, Gi... ORPHA:77259
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Drooling, Failure to thrive in infancy, Self-injurious behavior, Hyperactivity, Th... ORPHA:261323
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Dystonia, Gait disturbance OMIM:614898
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation, Narrow palate OMIM:615516
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Hyperactivity, Everted lower lip vermilion, Splenomegaly, Hepatome... OMIM:252930
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Hyperactivity, Tented upper lip vermilion, Dental crowding, Macroorchidism, Impulsivity OMIM:300143
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Palpitations, Goiter, Tachycardia, Weight loss OMIM:613239
Lamb-Shaffer Syndrome
Thoracic kyphosis, Hyperactivity, Ataxia, Scoliosis, Fused cervical vertebrae, Thick vermilion bo... ORPHA:530983
Koolen-De Vries Syndrome
Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Vertebral fusion, Cl... OMIM:610443
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperactivity, Aggressi... OMIM:615286
Wieacker-Wolff Syndrome
Broad alveolar ridges, High palate, Dystonia, Long philtrum, Drooling, Short neck, Kyphosis, U-Sh... OMIM:314580
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Hepatomeg... ORPHA:263455
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... OMIM:615710
Pelizaeus-Merzbacher Disease
Dystonia, Kyphosis, Failure to thrive in infancy, Ataxia, Scoliosis, Cachexia, Gait disturbance ORPHA:702
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Flynn-Aird Syndrome
Kyphosis, Carious teeth, Ataxia, Scoliosis, Cachexia ORPHA:2047
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Abnormal blood ion concentration, Abnormal oral mucosa... ORPHA:79404
19P13.3 Microduplication Syndrome
Narrow mouth, Unilateral cryptorchidism, Short philtrum, Self-injurious behavior, Hyperactivity, ... ORPHA:447980
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hyperactivity, Splenomegaly, Hepatomegaly, Aggressive behavior, As... OMIM:252920
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Kyphosis, Congestive heart failure, Hepatomegaly, Hype... OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Scoliosis, Kyphosis, Slender build OMIM:300676
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Short neck, Abnormal form of the vertebral bodies, Abnormality of the tong... ORPHA:3098
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Macroglossia, Cardiomyopathy, Brady... OMIM:261740
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Hepatic cyst... ORPHA:284
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Hy... ORPHA:330015
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Intestinal malrotation, Deep philtrum, Oral cleft, Incomplete cleft of the upper lip ORPHA:77300
Cockayne Syndrome Type 2
Kyphosis, Widely spaced primary teeth, Enamel hypoplasia, Cryptorchidism, Ataxia, Hepatomegaly, D... ORPHA:90322
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Decreased body weight, Low frustration tolerance, Shuffling gait, Cr... OMIM:300534
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Cervical subluxation, Hypoplasia of the odontoid process, Cario... OMIM:253010
Feingold Syndrome
Abnormal form of the vertebral bodies, Esophageal atresia, Oral cleft, Abnormality of the spleen,... ORPHA:1305
Intellectual Disability, Birk-Barel Type
Short philtrum, Sacral dimple, Open mouth, Hyperactivity, Tented upper lip vermilion, High, narro... ORPHA:166108
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Inability to walk, Kyphosis, Exaggerated startle response OMIM:609541
16P13.2 Microdeletion Syndrome
Kyphosis, Cryptorchidism, Overweight, Aggressive behavior, Failure to thrive, Scoliosis, Gait dis... ORPHA:500055
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Dental crowding, Persistence of hemoglobin F, Persistence of primary t... OMIM:619769
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Colitis, Hepatomegaly, Failure to thrive, Hepati... OMIM:614602
Alexander Disease
High palate, Short neck, Kyphosis, Self-injurious behavior, Hyperlordosis, Ataxia, Hypotension, S... ORPHA:58
Metatropic Dysplasia
Kyphosis, Caudal appendage, Hypoplasia of the odontoid process, Platyspondyly, Anisospondyly, Sco... OMIM:156530
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Sjögren-Larsson Syndrome
Scoliosis, Abnormal dental enamel morphology, Kyphosis ORPHA:816
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Hyperactivity, Truncal obesity, Failure to ... ORPHA:73272
Angelman Syndrome
Happy demeanor, Drooling, Self-injurious behavior, Anxiety, Obesity, Inability to walk, Ataxia, W... ORPHA:72
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Hyperactivity, Splenomegaly, Hepatomegaly, Asymmetric septal hyper... OMIM:252900
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia