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Gene: Cldn12 MGI:1929288

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Gene Summary

Name:
claudin 12
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Cldn12tm1b(EUCOMM)Wtsi HOM Early adult 5.60×10-08
hyperactivity Cldn12tm1b(EUCOMM)Wtsi HOM   Early adult 4.22×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 0.0% (0 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Cecum N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Lymph node N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

9 Images

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Adult LacZ

LacZ Images Wholemount

27 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Human diseases caused by Cldn12 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 Cldn12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... OMIM:267700
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hepatic fibrosis, Hypoalbu... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... OMIM:603553
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Small for gestat... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Su... ORPHA:137675
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Short... ORPHA:79102
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Tremo... OMIM:614947
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, E... ORPHA:365
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Conges... OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir... ORPHA:275555
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Abno... ORPHA:263455
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Hypogl... ORPHA:324575
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Aggressive behavior, Tremor, Jaundice, Flexion contracture, Hypsar... OMIM:608093
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemi... ORPHA:2494
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... OMIM:620270
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... ORPHA:309169
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Increased C-peptide leve... ORPHA:276580
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... ORPHA:90041
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan... ORPHA:263501
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Increased C-peptide ... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Increased C-peptide level, Hyperinsulinemia... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Congenital sensorineural hearing impairment, Elevated c... OMIM:617872
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosplenomegaly, Lymph... ORPHA:98850
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, R... ORPHA:363400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... OMIM:620066
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Ascites,... ORPHA:90362
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... ORPHA:232
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Diabetes mellitus, Optic atroph... ORPHA:1177
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... OMIM:615924
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... ORPHA:158048
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Focal EEG discharges with... ORPHA:3077
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... ORPHA:276435
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Microcyt... OMIM:618805
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, P... ORPHA:276608
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... OMIM:619991
Johanson-Blizzard Syndrome
Diabetes mellitus, Abnormality of the pancreas, Sensorineural hearing impairment, Failure to thri... ORPHA:2315
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Tetraplegia, Hypertonia, Microphthalmia, Failure to thrive, Letharg... OMIM:274270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Neutropenia, Hyperammonemi... ORPHA:79312
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Spastic paraplegia, Babinski sign, Elevated circulating alkaline p... ORPHA:329475
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis,... ORPHA:1655
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Stillbirth, Neonatal hypoproteinemia OMIM:152800
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, EEG abnormality... OMIM:612126
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... OMIM:235255
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Irritability, Elevated circula... OMIM:613489
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat... ORPHA:48818
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Congenital Toxoplasmosis
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Failure to thri... ORPHA:858
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... ORPHA:91547
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... ORPHA:206443
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Nodular regenerative hy... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Cardiac arrest, Tremor, Low-set ears, Failure to thrive OMIM:618951
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... ORPHA:599373
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure... ORPHA:99852
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Facial palsy, Craniosynostosis, Throm... OMIM:259700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, High-frequency sensorineural hearing impairment, Abnormal circulating enzyme conce... ORPHA:2590
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Incoordination, Ataxia, Clonu... ORPHA:480864
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Abnormal pyramidal sign, Dysmetria, ... ORPHA:48431
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... ORPHA:90117
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abnormal lactate dehydrogenase level, Microangiopathic he... ORPHA:54057
Classic Galactosemia
Reduced bone mineral density, Lethargy, Hepatomegaly, Ataxia, Osteoporosis, Depression, Clumsines... ORPHA:79239
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Elevated circulating aspartate aminot... OMIM:619658
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of a... OMIM:615010
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating asp... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Tremor, Retrobulbar optic neuritis,... OMIM:619737
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, EEG abnormality, Elevate... ORPHA:529665
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Inguinal hernia, Elevated circulating creatine kinase concentration,... OMIM:616809
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Cranial nerve compression, Hepa... ORPHA:210110
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... ORPHA:264580
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, Hypergly... ORPHA:134
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Ascites, Hypoal... OMIM:608104
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Sensorineural hearing impairme... OMIM:619046
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... ORPHA:85443
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Extremely elevated creatine kinase, A... OMIM:615673
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Cran... ORPHA:52430
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... OMIM:608799
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... ORPHA:465508
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Absent leukocyte alkaline phosphatase OMIM:242880
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Tremor, Hepatomegaly, Ataxia, Scarring, Gait d... ORPHA:90321
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculat... OMIM:604484
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated... ORPHA:228346
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration, EEG with focal spikes, Ataxia OMIM:616917
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b... OMIM:614866
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Tremor, Microphthalmia, Spasticity OMIM:278780
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... ORPHA:94093
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Distal sensory impairme... OMIM:616719
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... ORPHA:71212
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia, Large for gestational age ORPHA:2432
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Thromboc... ORPHA:905
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Failure ... OMIM:615198
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Anorexia, Low alkaline phosphatas... OMIM:241500
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Emotional lability, Irritab... OMIM:201100
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Sensorineural hearing impairment... ORPHA:290
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g... ORPHA:53035
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... OMIM:609260
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... OMIM:616733
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... ORPHA:99027
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Diabetes mellitus, Ataxia, Telangiectasia of the skin... ORPHA:100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Spastic... OMIM:617710
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Retinal dystrophy, Inability to w... OMIM:616756
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... ORPHA:52368
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Spastic tetraparesis, Aggressive behavior, Inability to ... OMIM:300148
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Hypertension, Pro... ORPHA:97229
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Leukopenia, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia, Spastic hemiparesis... ORPHA:20
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II ... OMIM:520000
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati... OMIM:620366
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal... OMIM:615085
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Prominent antitragus, Ataxia, Low alkaline phosphatase OMIM:618879
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, U... ORPHA:87876
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, ... OMIM:229300
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Inability to... OMIM:613155
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Hepatomegaly, Ataxia, Optic atrophy, Dysm... ORPHA:93400
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Jaundice, Schistocytos... OMIM:274150
Hypophosphatasia, Childhood
Waddling gait, Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis OMIM:241510
Leptospirosis
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Anorexia, Jaundice,... ORPHA:509
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... ORPHA:99826
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Hypoxemia, Pulm... ORPHA:90060
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dy... OMIM:261630
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration OMIM:161900
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen... OMIM:614307
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Aminoaciduria, Elevated ga... OMIM:124000
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, St... OMIM:235555
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Atrial fibrillation, Craniosynostosis... ORPHA:525731
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... OMIM:618093
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Osteoporosis, Obesity, Depression, Hypertension, Hyperostosis frontalis intern... ORPHA:77296
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Camurati-Engelmann Disease, Type 2
Waddling gait, Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Disproportion... OMIM:606631
Multiple Myeloma
Osteopenia, Tall stature, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentrat... ORPHA:29073
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Spastic Paraplegia 11, Autosomal Recessive
Lower limb spasticity, Ataxia, Impaired distal vibration sensation, Impaired vibration sensation ... OMIM:604360
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Abnormal circulating enzyme concentration or activity, Ataxia, Tremor... ORPHA:79263
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Abnormal urinary acylglycine profile, G... ORPHA:391417
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Weight loss, Elevate... ORPHA:330001
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... OMIM:213600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... OMIM:619470
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... ORPHA:230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Parkinsonism, Ob... OMIM:300055
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, S... ORPHA:621
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sign, Dysphagia, Hypsarrhyth... OMIM:308350
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotensi... ORPHA:391673
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, B... OMIM:613280
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... OMIM:616269
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased cir... ORPHA:85450
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertension, Hypertonia, Gait disturbance, Type I diab... ORPHA:1192
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Small for gestational age, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Dysphag... OMIM:261640
C3 Glomerulopathy
Lipodystrophy, Drusen, Elevated circulating creatinine concentration, Hypertension, Yellow/white ... ORPHA:329918
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulati... OMIM:227810
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... OMIM:128235
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... ORPHA:563
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Repetitive c... ORPHA:66634
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Graft Versus Host Disease
Elevated hepatic transaminase, Tachycardia, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaun... ORPHA:39812
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, ... ORPHA:3095
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, A... ORPHA:96
Refsum Disease
Abnormality of retinal pigmentation, Ataxia, Heart block, Splenomegaly, Sensorineural hearing imp... ORPHA:773
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Facial palsy, Elevated circulating creatine kinase ... OMIM:167320
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... OMIM:616026
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... ORPHA:240103
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... ORPHA:400
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Overweight, Tremor, Cranial hyperostosis, Depression, Hyperkinetic movemen... ORPHA:457240
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Self hugging, I... OMIM:182290
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... OMIM:616881
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Biliary tract abnormality, Obesity, Type II d... ORPHA:3191
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... OMIM:277900
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... ORPHA:227510
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cel... OMIM:613179
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, First degree atrioventricular block, Sudden cardiac death, Elevated... OMIM:310300
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear... OMIM:222300
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Hepatomegaly,... OMIM:613327
Gm1 Gangliosidosis
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Cherry red spot of the macul... ORPHA:354
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Po... ORPHA:2089
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... ORPHA:99745
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Hearing ... ORPHA:208441
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp... OMIM:615157
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... ORPHA:309854
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... ORPHA:254892
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Impaired distal proprioception, Cardiomegaly... ORPHA:14
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... ORPHA:2388
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... ORPHA:206436
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Clonus, Spastic tetraparesis, Sensorineur... ORPHA:423479
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... OMIM:245480
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo... OMIM:607426
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation... ORPHA:2929
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... OMIM:617916
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Congestive heart failure, Leukocytosi... ORPHA:67
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment OMIM:614896
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... ORPHA:1942
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... OMIM:613135
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... ORPHA:84081
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Ap... OMIM:617810
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Gombo Syndrome
Microphthalmia OMIM:233270
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagia, Microph... OMIM:612379
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Babinski sign, Dysmetr... OMIM:210000
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... OMIM:235200
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... OMIM:239100
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di... OMIM:208920
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Hepat... ORPHA:1329
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy OMIM:309930
Cofs Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger, Sensorineural hearing impairment, O... ORPHA:1466
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... ORPHA:542323
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... ORPHA:466677
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Stiff-Person Syndrome
Exaggerated startle response, Tachycardia, Diabetes mellitus, Rigidity, Opisthotonus, Depression,... OMIM:184850
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Abscess, Myoca... ORPHA:36234
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Failure to thrive, Pericarditis, Ataxia, Elevated hepatic transaminase,... OMIM:212065
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Sensorineural hearing ... ORPHA:98907
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Achilles tendon c... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... OMIM:601455
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increased body weight, Depres... OMIM:615830
Mevalonic Aciduria
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Failure ... OMIM:610377
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... ORPHA:98853
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Osteoporosis, Depression, Gait disturb... ORPHA:909
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Cockayne Syndrome B
Tremor, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Loss of facial adip... OMIM:133540
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged ... OMIM:209950
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... OMIM:214500
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... OMIM:174050
Familial Expansile Osteolysis
Osteolysis, Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria, Conductiv... OMIM:174810
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Acute Interstitial Pneumonia
Cyanosis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ... ORPHA:79126
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... OMIM:606159
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Warburg Micro Syndrome 1
Failure to thrive, Optic atrophy, Osteoporosis, Spastic diplegia, Low-set ears, Microphthalmia, M... OMIM:600118
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Internal hemorrhage, Leukocytosis, Elevated circulating creatinine conce... ORPHA:340
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... ORPHA:369873
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal EKG, Hepatomegaly, Abnorm... ORPHA:3385
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, ... ORPHA:94125
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Reduced beta-hexosam... OMIM:268800
Peroxisome Biogenesis Disorder 5B
Ataxia, Retinal dystrophy, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated circ... OMIM:614867
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Ankle flexion ... ORPHA:100924
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... ORPHA:398124
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcemia, Obesity, ... ORPHA:251004
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... ORPHA:98863
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, ... ORPHA:90038
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritability, Sparse bone tr... OMIM:264700
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Elevated circulating creatinine concentration ORPHA:567544
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati... ORPHA:98855
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Macular scar, Sensorineural hearing impairment, Hydro... OMIM:239000
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... OMIM:617435
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased body weight, Depression, Hypertension, Abdominal obesity, Increased circu... OMIM:615954
Rett Syndrome
Cachexia, Gait apraxia, Truncal ataxia, Bruxism, Gait ataxia, EEG abnormality, Dystonia, Abnormal... OMIM:312750
Saccharopinuria
Citrullinuria, Tremor, Spastic diplegia, Hypercystinemia, Distal sensory impairment, Gait ataxia,... ORPHA:3124
Oculopharyngodistal Myopathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm... OMIM:619473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Rod... OMIM:615986
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... OMIM:615688
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... ORPHA:890
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... ORPHA:3008
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy OMIM:616171
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit... ORPHA:589905
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae, Elevated circulat... OMIM:277440
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic mo... OMIM:233910
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... ORPHA:268
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... ORPHA:179494
Lead Poisoning
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... ORPHA:330015
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autono... ORPHA:329284
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Ab... ORPHA:2131
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... OMIM:617013
Dpagt1-Cdg
Tremor, Flexion contracture, Intracranial hemorrhage, Hypertonia, Diffuse optic disc pallor, Hepa... ORPHA:86309
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Flexion contracture, Hypsarrhythmia, Type I diabetes mellitus, Hyperglyc... OMIM:618856
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Hepatomegaly, Increased bone mine... OMIM:259720
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Elevated circulating creatine kinase concentration, Impaired pain sensation, B... ORPHA:314389
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cockayne Syndrome A
Tremor, Ivory epiphyses of the phalanges of the hand, Loss of facial adipose tissue, Hepatomegaly... OMIM:216400
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal circulating enzyme concentration or activity, Ataxia, Neonatal hypoglycemia, Aggressive ... ORPHA:572798
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme... ORPHA:812
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis, Hearing impairment OMIM:606263
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Tremor, Congestive hea... OMIM:615512
Cataract 11, Multiple Types
Microphthalmia, Chorea, Hypertonia OMIM:610623
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Inability to walk, Large earlobe, Elevated circulating alkaline phosphatas... OMIM:615716
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi... ORPHA:69663
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600081
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... ORPHA:206448
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Low-set ears OMIM:616570
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, W... ORPHA:2070
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Optic atrophy, Impaired vi... ORPHA:137898
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials... OMIM:619260
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia, Retinal dysplasia OMIM:615771
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Obesity, Dysm... ORPHA:93952
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Small for gestational age, Camptodactyly of finger, Microphtha... ORPHA:1617
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Inabi... OMIM:312080
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... ORPHA:3226
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Pierpont Syndrome
Small for gestational age, Posteriorly rotated ears, Uplifted earlobe, Abnormal subcutaneous fat ... ORPHA:487825
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Cholestasis, Hypoglycemic seizures, Failure ... ORPHA:71526
Osteoporosis-Pseudoglioma Syndrome
Waddling gait, Retinal detachment, Osteopenia, Osteoporosis, Abnormal vitreous humor morphology, ... ORPHA:2788
Pierpont Syndrome
Posteriorly rotated ears, Large fleshy ears, Hypertonia, Decreased body weight, Microphthalmia, F... OMIM:602342
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Flexion contracture, Neutropenia... OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hypotriglyceridemia, Hepa... ORPHA:404454
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... ORPHA:171
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased p... ORPHA:66628
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Poor fine motor coordination, Sick sinus syndrome, Bra... ORPHA:542306
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Posteriorly rotated ears, Car... OMIM:618143
Non-Functioning Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612926
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp... ORPHA:98849
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Cerebral palsy, Ataxia, Lower limb spasticity, EEG with generalized ... ORPHA:163681
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Maternal diabetes,... ORPHA:860
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Elevated circulating alkaline phosphatase concentration, Elevated circulating... OMIM:615424
Sneddon Syndrome
Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, Ischemic stroke, Impaire... OMIM:182410
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Anemia OMIM:614450
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... OMIM:241530
Fibrous Dysplasia Of Bone
Thin bony cortex, Antalgic gait, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasi... ORPHA:249
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... ORPHA:69665
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnor... OMIM:616267
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612925
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, Spasti... OMIM:617864
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Hemiparesis, Leuko... ORPHA:974
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, EEG abnormality, Self-injurious behavior, Low-set ears,... OMIM:618718
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... OMIM:248370
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Sensorineural hearing impairment, Flexion contracture, Osteoporosis, E... OMIM:214150
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612924
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Bulimia, Optic atrophy, Obesity, Mitral regurgitation, Pulmonar... OMIM:614651
Cockayne Syndrome
Progressive gait ataxia, Retinal arteriolar constriction, Congenital contracture, Hypertonia, Ret... ORPHA:191
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Hypochromic anemia OMIM:606893
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Splenic rupture, Opisthotonus, Left ventricular hypertrophy, Microphthalmi... ORPHA:335
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Raynaud phe... OMIM:613471
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatic steatosis, Hepatomegaly... OMIM:608594
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Cherry red spot of the... ORPHA:355
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... OMIM:615923
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia OMIM:619073
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Protruding ear, Hepatic fibrosis, Elevated gamma-gluta... OMIM:619534
Alexander Disease
Osteopenia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Ataxia, Facial palsy, Sudden cardiac... ORPHA:58
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... OMIM:120330
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotion... ORPHA:542310
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... OMIM:615812
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Le... ORPHA:36238
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabet... OMIM:618857
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Retinal dysplasia, Hernia, N... OMIM:617052
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Overgrowth, Hernia, Microphthalmia, Leukemia OMIM:602501
Hyperlysinemia
Tremor, Dysmetria, Opisthotonus, Cystinuria, Hyperactivity, Clumsiness, Hypoornithinemia, Hyperly... ORPHA:2203
Ataxia-Telangiectasia
Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hyp... OMIM:208900
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level, Head-banging OMIM:619356
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr... ORPHA:89937
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Lens coloboma, Sel... OMIM:618914
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... OMIM:617101
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Obesity, Telangiectasia, Dystonia, Oculomotor apraxia ORPHA:459033
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder OMIM:254700
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalv... OMIM:620185
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... ORPHA:49041
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Dystonia, Lo... OMIM:607694
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Progressive spasticity ORPHA:2528
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Craniosynostosis, External ear malformation, Sensorineural h... ORPHA:254346
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytopenia, Hepat... ORPHA:292
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... OMIM:234200
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Bardet-Biedl Syndrome 2
Diabetes mellitus, Dilated cardiomyopathy, Obesity, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... ORPHA:98908
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate... ORPHA:186
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Elevated hepatic transaminase, Retinal atrophy,... OMIM:617406
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Incoordination, Aggressive behavior, Bilat... ORPHA:369891
Steinert Myotonic Dystrophy
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Insulin resistanc... ORPHA:273
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Thrombocytosis, Sclerosis of foot bone, L... ORPHA:2905
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Sandhoff Disease, Infantile Form
Exaggerated startle response, Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral re... ORPHA:309155
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Incoordination, Elevated circulating creatinine concentrati... OMIM:223900
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Amyloid depos... OMIM:105210
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anem... ORPHA:440713
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... OMIM:619738
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:529799
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Poor motor coordination,... ORPHA:25
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... ORPHA:99829
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Elevated circulating crea... OMIM:606002
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficienc... OMIM:602088
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... OMIM:222100
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Congenital diaphragmatic hernia, Pulmonary arterial ... OMIM:300887
Juvenile Nephropathic Cystinosis
Hyponatremia, Elevated alkaline phosphatase of bone origin, Hypouricemia, Hypovolemia, Elevated c... ORPHA:411634
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... ORPHA:98764
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Decreased nerve conduction velocity, Depression, Cardiomyopathy, Facial dip... ORPHA:329478
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... OMIM:260400
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Decreased methylmal... OMIM:251100
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,... ORPHA:77293
Osteosarcoma
Abnormal lactate dehydrogenase level, Osteolysis, Weight loss, Elevated circulating alkaline phos... ORPHA:668
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Abnormal e... ORPHA:98794
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ... ORPHA:646
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Dysphagia, Opi... ORPHA:3299
Fanconi Anemia, Complementation Group S
Microphthalmia, Failure to thrive, Ataxia, Anemia OMIM:617883
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens... OMIM:609136
Tyrosinemia, Type I
Acute hepatic failure, Hypophosphatemic rickets, Hepatomegaly, Periodic paralysis, Ascites, Anemi... OMIM:276700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Multifocal epileptifo... ORPHA:369837
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Elevated circulating creatinine concentration, Attenuation of reti... OMIM:614376
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Elevated circulating C-reactive p... ORPHA:90051
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac... OMIM:224120
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Clonus, Elevated circulating creatine kinase concentr... ORPHA:370959
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... OMIM:617675
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Elevated circulating creatine kinase con... OMIM:614298
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Angina pe... ORPHA:565612
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Tremor... ORPHA:1454
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Aggressive behavior, Chorioretinal lacunae, Optic at... OMIM:152950
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Neonatal death, Microphthalmia, Spasticity OMIM:613730
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Ataxia, Aganglionic megacolon, Oculomotor apraxia, Cupped ear,... ORPHA:247262
Moebius Syndrome
Abnormal pinna morphology, Poor coordination, Dysphagia, Clumsiness, Facial diplegia, Dysdiadocho... OMIM:157900
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... ORPHA:941
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Epiphyseal stippling, Type I... OMIM:274300
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Incontinentia Pigmenti
Retinal detachment, Abnormal chorioretinal morphology, Telangiectasia of the skin, Eosinophilia, ... ORPHA:464
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Aganglionic megacolon, Abnormally large globe, Sensorineural hearing im... OMIM:239300
Temtamy Syndrome
Aortic regurgitation, Self-mutilation, Hypertonia, Low-set ears, Chorioretinal coloboma, Micropht... OMIM:218340
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebe... ORPHA:502423
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ... OMIM:277400
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Paralysis, Impaired myocardial contractility, Respiratory paralysis, Postpr... ORPHA:681
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... ORPHA:713
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Lissencephaly 8
Appendicular spasticity, Microphthalmia, Optic atrophy, Elevated circulating creatine kinase conc... OMIM:617255
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration, Umbilical hernia, Inguinal hernia, Hypsa... OMIM:616025
Joubert Syndrome 32
Ataxia, Large for gestational age, Oculomotor apraxia, Hypertrophic cardiomyopathy, Tall stature OMIM:617757
Gorham-Stout Disease
Osteopenia, Torticollis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bones... ORPHA:73
Cockayne Syndrome Type 3
Flexion contracture, Adult onset sensorineural hearing impairment, Conductive hearing impairment,... ORPHA:90324
Ddost-Cdg
Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to th... ORPHA:300536
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Adrenocortical Carcinoma
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:1501
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Bradykinesia, Gait... OMIM:137440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600785
Perry Syndrome
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Hypo... ORPHA:178509
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Violent behavior, Broad-based gait, Inguinal hernia, Hepatomegaly, Elevated circulating aspartate... OMIM:280000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Osteoporosis... OMIM:612199
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Irritability, Glucose intolerance, Hy... OMIM:616539
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Diabetes mellitus, Ataxia, Retinal dystrophy, Hearing im... OMIM:209900
Joubert Syndrome 14
Ataxia, Posteriorly rotated ears, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage, ... OMIM:614424
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Optic atrophy, Microp... ORPHA:1528
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Joubert Syndrome 37
Hepatomegaly, Posteriorly rotated ears, Obesity, Low-set ears, Oculomotor apraxia, Microphthalmia OMIM:619185
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... ORPHA:101016
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Exocrine pancreatic insufficiency, Steatorrhea, EEG abnormality, Elev... OMIM:618268
Aicardi-Goutières Syndrome
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Acrocyano... ORPHA:51
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Optic disc coloboma, Elevated circula... ORPHA:2260
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh... ORPHA:3260
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Depression, Inappropriate be... OMIM:168605
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Chorioretinal coloboma, Micr... ORPHA:1473
Trichothiodystrophy
Osteopenia, Multiple joint contractures, Abnormal pyramidal sign, Gait ataxia, Protruding ear, Ma... ORPHA:33364
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria, Rickets, Glycosuria OMIM:615605
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cushing Disease
Lymphopenia, Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Myocardial inf... ORPHA:96253
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Elevated systolic blood pressure, Decrea... OMIM:300539
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperalaninemia, Inguinal hernia, Small for gestational age, Ataxia, Tremor, Hyperammonemia, Hype... OMIM:614052
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase ac... ORPHA:79255
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Anorexia, Pancreatitis, Jaundice, Elevated circulatin... ORPHA:521219
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Abdominal adhesions, Hypertonia, Low-set ears, Neutropenia, Microphthalmia, Ly... OMIM:616395
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Progress... ORPHA:514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Left ventricular hypertrophy, Elevated circulating creatine k... OMIM:613153
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Speech apraxia, Ele... OMIM:615356
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
Holoprosencephaly
Omphalocele, Hyponatremia, Anophthalmia, Failure to thrive in infancy, Hypoglycemia, Congenital d... ORPHA:2162
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Chorioretinal coloboma, Hearing impairment OMIM:120433
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetany, Laryngeal dysto... ORPHA:79443
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Spastic te... OMIM:618598
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Iron deficiency anemia, Low-se... OMIM:618885
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Tetraplegia, Hypsarrhythmia,... OMIM:610768
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Glycosuria, Lower... ORPHA:99885
Tick-Borne Encephalitis
Anorexia, Elevated circulating C-reactive protein concentration, Tremor, Leukopenia, Tongue fasci... ORPHA:297
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Posteriorly rotated... ORPHA:899
Gracile Bone Dysplasia
Failure to thrive, Asplenia, Ascites, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen,... OMIM:602361
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Protruding ear, Hypertonia, Tics, Chorioretinal coloboma, Compulsive behaviors, Decreased... OMIM:619475
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Paraparesis, Osteolysis, Elevated circulating alkaline phosphatase concentration, ... OMIM:602080
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Decre... ORPHA:412
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... OMIM:612561
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Abscess, Myocarditis, Leukocy... ORPHA:810
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:231625
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa... ORPHA:320406
Brucellosis
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Chorea, Leukopeni... ORPHA:1304
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, G... ORPHA:411511
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Appendicular spasticity, Posteriorly rotated ears, Inability to walk, Hypsarrhythmia, Low-set ear... OMIM:618494
Biemond Syndrome Type 2
Microphthalmia, Obesity ORPHA:141333
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin conce... OMIM:222700
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c... OMIM:175700
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia OMIM:615524
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Microphthalmia, Decreased skull ossification, Low-set ears ORPHA:93267
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Retinal pigment epithelial mottling, Elevated urinary aminoisobutyric aci... OMIM:614105
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Camptodactyly, Microphthalmia, Spasticity, Macrotia OMIM:619694
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Angelman Syndrome
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... ORPHA:72
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat... OMIM:615422
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Clonus, Tremor, Cardio... OMIM:619424
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:620138
Arthrogryposis, Distal, Type 2A
Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... OMIM:193700
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Elevated cir... OMIM:156400
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Hearing impairment ORPHA:195
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia, Chorioretinal coloboma OMIM:300915
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdia... OMIM:614381
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Elevated circulating alkaline phosphatase c... OMIM:134600
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Knee flexion contracture, Pulmonic stenosis, Attention ... ORPHA:435638
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia,... OMIM:193100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat... ORPHA:79644
Short Syndrome
Inguinal hernia, Rieger anomaly, Lipoatrophy, Small for gestational age, Lipodystrophy, Sensorine... OMIM:269880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Jaundice, Neutropenia, Dysphagia, Hypertonia, B... OMIM:617248
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Atax... OMIM:619229
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase ... OMIM:615181
Seckel Syndrome 2
Microphthalmia, Small for gestational age, Heart murmur OMIM:606744
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Overfolded helix, Low-set ears, Chorioretinal coloboma, Microph... OMIM:243310
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... OMIM:609541
Paget Disease Of Bone 6
Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concentration OMIM:616833
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... ORPHA:401923
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Polycythemia, Opisthotonus, Hypertonia, Methemoglobinemia OMIM:250800
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Obesit... ORPHA:2822
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Sensorineural hearing impairment, Ectopic ossification in ... OMIM:135100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, EEG abnormality, Decreased ... OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Scrub Typhus
Tremor, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension, Lethargy ORPHA:83317
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick... ORPHA:289157
Braddock-Carey Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment OMIM:619981
Monosomy 18P
Generalized dystonia, Protruding ear, Hypertension, Abnormal antihelix morphology, Microphthalmia... ORPHA:1598
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hypocapnia, He... ORPHA:466650
Serotonin Syndrome
Restlessness, Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hypertonia, Agit... ORPHA:43116
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Microphtha... OMIM:618652
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hy... OMIM:609069
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... ORPHA:94086
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-... ORPHA:1438
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia OMIM:174000
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Abnormal antihelix morphology, ... ORPHA:85194
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, EEG with burst suppression,... OMIM:615574
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... ORPHA:276621
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Kenny-Caffey Syndrome, Type 2
Papilledema, Increased bone mineral density, Transient hypophosphatemia, Small for gestational ag... OMIM:127000
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Impulsivity, Impaired temperature sensation, Flexion contracture, Osteoporosis, Incre... ORPHA:398069
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Abnormal retinal morphology, Camptodactyly of finger, Posteriorly r... OMIM:610758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Lower limb spasticity, Large for gestational age, Birth length gre... OMIM:300868
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Pulmonic stenosis OMIM:613312
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Self-injurious behavior, Chorioretinal coloboma... ORPHA:494344
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, He... ORPHA:79474
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking, Emotional l... ORPHA:3198
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Clonus, Hypoammonemia, Protruding ear, Aminoaciduria, Compulsive behavio... ORPHA:534
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ... ORPHA:163649
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Dystonia, Small for gestational age, Ataxia, Hypoglycemia, Increased hepatocellu... OMIM:220111
3Q29 Microdeletion Syndrome
Failure to thrive, Aggressive behavior, Depression, Gait disturbance, Low-set ears, Attention def... ORPHA:65286
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Delay... ORPHA:785
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine ORPHA:289601
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Abnormal autonomic n... OMIM:300894
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Inability to walk, Flexion contracture, Optic atrophy,... OMIM:615663
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Low-set ears, Camptodactyly, Conductive hearing im... OMIM:136760
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity ORPHA:363741
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of ... ORPHA:98791
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Cyanosis, Impaired pain sensation, Aggressive behavi... ORPHA:293987
Developmental And Epileptic Encephalopathy 80
Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Elevate... OMIM:618580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Japanese Encephalitis
Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hyper... ORPHA:79139
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Increased bone mineral density, Obesity, Depression, Irritabil... ORPHA:79444
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Obesity OMIM:601794
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Optic disc coloboma, Telangiectasia, Choreoathetosis, H... OMIM:234100
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, ... OMIM:619488
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Leptin Receptor Deficiency
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... OMIM:614963
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia ORPHA:324416
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Osteomalacia, Hypocalcemia OMIM:179800
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Sensorineural hearing impairment, Optic atrop... ORPHA:3378
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hypoglycemic seizures, Cholestasis, Hyperbilirubin... OMIM:609734
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Abnormal pinna morphology, Scarring alopecia of scalp, Sensorineur... ORPHA:35173
Sotos Syndrome
Posteriorly rotated ears, Neonatal hypoglycemia, Aggressive behavior, Poor coordination, Increase... OMIM:117550
Galloway-Mowat Syndrome 1
Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Spastic tetraplegia, H... OMIM:251300
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Tremor, Decreased ... ORPHA:512
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Hearing impairment OMIM:610023
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Craniosynostosis, Congenital diaphragmatic hernia, Sensorineural hearing impairme... ORPHA:261197
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Temtamy Syndrome
Low-set ears, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Tremor, Congest... ORPHA:29072
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Ataxia, Obesity, Pigmentary retinopathy, Hypertonia, Prolonged n... OMIM:612291
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Ele... OMIM:307800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Abnormality of extrapyramidal motor function, Hype... ORPHA:79233
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... OMIM:618877
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Insulin resist... ORPHA:769
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Retinal dystrophy, Anemia OMIM:266900
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Subperiosteal bone formation, Elevated circulating alkaline phosphat... OMIM:618188
Joubert Syndrome 22
Oculomotor apraxia, Microphthalmia, Retinal dysplasia OMIM:615665
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Abnormally large globe, Sensorineural hearing... OMIM:615249
Histidinemia
Hyperactivity ORPHA:2157
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Impaired temperature sensation, Osteoporosis, Obesity, Chorioretinal hypopigmentation... ORPHA:398079
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Elevated circulating alkaline phosphatase concentration, Gait dis... ORPHA:352540
Martsolf Syndrome 1
Inguinal hernia, Posteriorly rotated ears, Cardiac arrest, Clonus, Congestive heart failure, Spas... OMIM:212720
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia, Conductive hearing impairment, ... OMIM:609053
Warburg Micro Syndrome 3
Lower limb spasticity, Inability to walk, Flexion contracture, Optic atrophy, Spastic tetraplegia... OMIM:614222
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Hypercapnia, Elevated circulating creatine ... OMIM:164310
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Mixed hearing impairment, Osteoporosis, Elevated circulating alkaline phosphatase con... OMIM:126550
Hypophosphatasia, Adult
Low alkaline phosphatase, Rickets, Osteomalacia, Chondrocalcinosis OMIM:146300
Listeriosis
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Cholecystitis,... ORPHA:533
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia, Hypertonia, Syncope, Myoclonus OMIM:614618
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia ORPHA:291
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Sandestig-Stefanova Syndrome
Small for gestational age, EEG abnormality, Low-set ears, Camptodactyly, Angulated antihelix, Mic... OMIM:618804
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... ORPHA:521426
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... OMIM:617099
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Bradykinesia, Blepharospasm,... ORPHA:683
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Osteoporosis, Obesity, Hypertension, Abdominal obesity, Glucose intol... OMIM:219090
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration, Osteolysis, Patchy osteosclerosis, Heari... OMIM:167250
Wagro Syndrome
Aggressive behavior, Obesity, Hypertension, Agitation, Low frustration tolerance, Low-set ears, C... OMIM:612469
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Left ventricular hypertrophy, Atrial fibrillation, Prolonged PR interval OMIM:108900
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... ORPHA:449395
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... ORPHA:90068
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu... OMIM:610505
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... ORPHA:466768
Woodhouse-Sakati Syndrome
Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Protruding ear... ORPHA:3464
Meckel Syndrome, Type 8
Microphthalmia, Enlarged kidney, Anophthalmia, Low-set ears OMIM:613885
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:600901
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Small earlobe, Abnormal de... ORPHA:567
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Bilateral microphthalmos, Tongue thrusting ORPHA:77299
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Aggressive behavior, Pulmonic... OMIM:619148
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Sensor... ORPHA:91355
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Protruding ear, Low-set ears, Neonatal death, Micr... ORPHA:85284
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Aggressive behavior, Protruding ear, Gait disturbance, Joint contracture of the 5th finger, Low-s... OMIM:620098
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Aggressive behavior, Inability to walk, Difficulty walking, Low-set ears, Microp... ORPHA:464738
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Craniosynostosis ORPHA:2117
Woodhouse-Sakati Syndrome
Diabetes mellitus, Sensorineural hearing impairment, Hyperlipidemia, Protruding ear, Choreoatheto... OMIM:241080
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Abnormal aut... OMIM:168600
Adams-Oliver Syndrome 2
Optic atrophy, Protruding ear, Low-set ears, Microphthalmia, Limb hypertonia OMIM:614219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment, Flexion contracture... ORPHA:847
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... ORPHA:730
Craniometadiaphyseal Dysplasia
Osteopenia, Abnormally large globe, Sclerosis of skull base, Elevated circulating alkaline phosph... OMIM:269300
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Senso... ORPHA:193
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Telangiectasia of the skin, Abnormal dental ... ORPHA:2092
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Optic atrophy, Elbow ... OMIM:617301
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... OMIM:227650
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Sensorineural hearing impairment, Telangiectasia, Choreoathetosis, Microphthalmia, Spasti... OMIM:278730
Raine Syndrome
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... OMIM:259775
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Inguinal hernia, External ear malformation, Congestive heart f... ORPHA:2505
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Periodic paralysis, Tremor, Weight loss, Hypokalemia OMIM:613239
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Optic atrophy, A... OMIM:617527
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Anorexia, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight... ORPHA:99889
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Scarring, Retinal vascular proliferati... OMIM:308300
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatate... ORPHA:1435
Baraitser-Winter Syndrome 2
Microphthalmia, Abnormal pinna morphology, Hearing impairment OMIM:614583
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Lymphadenopat... ORPHA:667
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Bab... OMIM:601992
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Posteriorly rotated ears, Congenital sensorineural hearing impair... OMIM:617306
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Abnormal auton... ORPHA:2828
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Oculodentodigital Dysplasia
Ataxia, Abnormal pinna morphology, Paraparesis, Enamel hypoplasia, Spasticity, Joint contracture ... OMIM:164200
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Somatic sensory dysfunction, Tachycardia, Abnormal circulating enzyme... ORPHA:79276
Dubowitz Syndrome
Inguinal hernia, Hyperactivity, Aplastic anemia, Protruding ear, Acute lymphoblastic leukemia, Hy... OMIM:223370
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials OMIM:109120
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating ... ORPHA:157215
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... OMIM:309000
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing impairment, Microph... OMIM:603467
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... ORPHA:508
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypertension, Hypoalbuminemia, Low-set ears, Camptodactyly, Microphthalmia, Spasti... OMIM:617729
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... OMIM:619769
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormal splee... ORPHA:2470
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Thrombocytosis, Pure red cell aplasia, Erythro... ORPHA:124
Mercury Poisoning
Tachycardia, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia ORPHA:330021
Joubert Syndrome 2
Ataxia, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Low-set ears, Oculomotor ... OMIM:608091
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spasti... OMIM:617281
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentration, Cerebral hemorrha... OMIM:175780
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Fanconi Anemia, Complementation Group R
Anemia, Microphthalmia, Bone marrow hypocellularity, Radial dysplasia OMIM:617244
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small for gestational age, Camptodactyly of finger, Hearing impairment OMIM:610756
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Impaired vibration sensation in the lowe... ORPHA:447753
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epiphyseal s... OMIM:302960
Dextrocardia
Abnormal EKG, Abnormality of the spleen, Abnormality of abdominal situs, T-wave inversion, Pancre... ORPHA:1666
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Depression, Clumsiness... ORPHA:199351
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Elevated circulating creatinine concentration, Systolic heart murmur, Low-set ears OMIM:617478
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression, Hearing impairment OMIM:620114
Osteogenesis Imperfecta, Type Xi
Osteopenia, Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta, H... OMIM:610968
Eiken Syndrome
Delayed epiphyseal ossification, Elevated circulating alkaline phosphatase concentration, Delayed... OMIM:600002
Momo Syndrome
Underfolded helix, Large for gestational age, Bilateral microphthalmos, Obesity, Overgrowth, Chor... ORPHA:2563
Dend Syndrome
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia ORPHA:79134
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Insu... ORPHA:91
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... OMIM:601214
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inability to walk, Protruding ear, Retinal coloboma, Gait disturbance, Difficulty walking, Low-se... OMIM:618571
Trisomy 10P
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... ORPHA:171929
Cryoglobulinemia, Familial Mixed
Hypertension, Elevated circulating creatinine concentration OMIM:123550
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Granulomatosis, Arteritis, Small vessel vasculitis... ORPHA:93126
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Neonatal hypoglycemia, ... ORPHA:116
Norrie Disease
Clonus, Protruding ear, Hypoplasia of the iris, Hypertonia, Abnormal repetitive mannerisms, Aplas... ORPHA:649
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... ORPHA:209902
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Uplifted earlobe, Low-set ears, Microphthalmia, Pulmonary arterial hypertension,... OMIM:616449
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... OMIM:300952
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Optic disc pallor, Broad-based gait, Exaggerated startle response, Involuntary moveme... ORPHA:438213
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Low-set ears, M... OMIM:241410
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... ORPHA:89936
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ears ORPHA:404440
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Optic nerve hypoplasia, Overweight, Delayed proximal femoral epiphyseal ossificatio... ORPHA:226307
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Decreased calvarial ossification, Mitral regurgitation, Hepati... OMIM:619879
46,Xy Sex Reversal 4
Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa... OMIM:154230
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Inguinal hernia ORPHA:1135
Jacobsen Syndrome
Flexion contracture, Optic atrophy, Spasticity, Macular hypoplasia, Chorioretinal coloboma, Low-s... OMIM:147791
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pig... OMIM:610651
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration, Inability to walk, Sensorineural hearing... OMIM:614207
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, Chorioreti... OMIM:212550
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia, Tongue fasciculations OMIM:608800
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Protruding ear, Tela... OMIM:601675
Alström Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Severe sensorineural hearing impairme... ORPHA:64
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Protruding ear ORPHA:627
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Reduc... OMIM:301040
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Microtia, Camptodactyly of finger ORPHA:2547
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Red... ORPHA:84
Otodental Syndrome
High-frequency sensorineural hearing impairment, Abnormal dental enamel morphology, Lens coloboma... ORPHA:2791
3Q29 Microduplication Syndrome
Craniosynostosis, Obesity, Aniridia, Low-set ears, Camptodactyly of toe, Microphthalmia, Hearing ... ORPHA:251038
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Lipoatrophy, Sensorineural hearing impairment, Osteoporosis, Hyper... OMIM:601812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Aganglionic ... OMIM:614749
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... ORPHA:2556
Kapur-Toriello Syndrome
Posteriorly rotated ears, Retinal coloboma, Atresia of the external auditory canal, Low-set ears,... ORPHA:2328
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Optic atrophy, Retinal co... ORPHA:2510
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Macrotia OMIM:600776
17Q12 Microduplication Syndrome
Microphthalmia, Self-injurious behavior ORPHA:261272
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Cardiomegaly, Abnormal retinal artery morphology, Abnormal calcific... ORPHA:51608
Norrie Disease
Retinal detachment, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Hypopla... OMIM:310600
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Hemiplegia/hemiparesis, O... ORPHA:50
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Delayed pubic bone ossification, Knee flexion contracture, Sclerosis of skull ... OMIM:618162
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Lipomas of eyelids, Cupped ear, Low-set ears OMIM:167730
Oculofaciocardiodental Syndrome
Retinal detachment, Sensorineural hearing impairment, Flexion contracture of the 2nd toe, Microph... ORPHA:2712
Microphthalmia With Limb Anomalies
Anophthalmia, Posteriorly rotated ears, Camptodactyly of 2nd-5th fingers, Low-set ears, Microphth... OMIM:206920
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Optic nerve hy... ORPHA:468631
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... OMIM:615745
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Camptodactyly of finger, External ear malformation, Optic disc... ORPHA:568
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Decreased skull ossification, Low-set ears OMIM:300863
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Limb hypertonia, Fasciculations, He... OMIM:620327
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase... OMIM:236670
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Microtia, Heart murmur, Hearing impairment ORPHA:2728
Heart And Brain Malformation Syndrome
Attached earlobe, Posteriorly rotated ears, Camptodactyly of finger, Low-set ears, Microphthalmia... OMIM:616920
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Coronal craniosynostosis, Low-set ears ORPHA:228390
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Early Infantile Epileptic Encephalopathy
Hyperactivity, EEG with spike-wave complexes, Tremor, EEG with burst suppression, Hypsarrhythmia,... ORPHA:1934
Marden-Walker Syndrome
Inguinal hernia, Congenital contracture, Low-set ears, Camptodactyly, Microphthalmia, Joint contr... OMIM:248700
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Low-set ears, Microphthalmia, Umbilical hernia, Thicken... ORPHA:77301
Stevenson-Carey Syndrome
Posteriorly rotated ears, Low-set ears, Camptodactyly, Microphthalmia, Joint contracture of the hand OMIM:611961
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Sensorineural hearing impairment, Chorioretinal coloboma, Microp... ORPHA:139471
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive sensorineural hearing ... OMIM:620186
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cyanosis, Cardiomegaly, Congestiv... ORPHA:980
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Retinal calcification, Cortical thickening of long bone di... ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia ORPHA:163985
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Low-set, posteriorly rotated ears, Osteolysis, Acute lymphoblastic leukemia... ORPHA:1052
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology OMIM:219750
Microphthalmia, Syndromic 9
Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Bilateral microphthalmos, Multilo... OMIM:601186
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia, Overgrowth OMIM:300607
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomega... ORPHA:904
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Cardiac Diverticulum
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... ORPHA:1686
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Conductive hearing impairment, Hepatic steat... ORPHA:1606
Boudin-Mortier Syndrome
Tall stature, Elevated alkaline phosphatase of bone origin, Difficulty walking OMIM:619543
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Abnormality of cartilage of external ear, Cupped ear, Bilateral microphthalmo... ORPHA:2399
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Warburg Micro Syndrome 2
Asymmetry of the ears, Flexion contracture, Optic atrophy, Spastic diplegia, Microphthalmia, Macr... OMIM:614225
Estrogen Resistance
Osteopenia, Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Hyperinsuli... OMIM:615363
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Low-set ears, Microphthalmia, Macrotia OMIM:615145
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Stillbirth, Low-set ears, Retinal vascular tortuosity, ... OMIM:243605
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353281
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
Myhre Syndrome
Small for gestational age, Ataxia, Obesity, Hypertension, Microtia, Low-set ears, Camptodactyly, ... OMIM:139210
Rothmund-Thomson Syndrome, Type 2
Underfolded helix, Small for gestational age, Osteoporosis, Annular pancreas, Telangiectasia, Pro... OMIM:268400
Mosaic Trisomy 9
Camptodactyly of finger, Asplenia, Abnormal liver lobulation, Low-set ears, Microphthalmia ORPHA:99776
Ritscher-Schinzel Syndrome 3
Microphthalmia, Epiphyseal stippling, Poorly ossified vertebrae, Chorioretinal coloboma OMIM:619135
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Craniosynostosis ORPHA:1553
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Cat Eye Syndrome
Biliary atresia, Low-set ears, Pulmonic stenosis, Chorioretinal coloboma, Umbilical hernia, Micro... OMIM:115470
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Blepharospasm, Microtia, Hypoplasia of the thymus, Abnormality... ORPHA:861
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Optic disc hypoplasia, Tremor, Hypertonia, Hepatic steatosis, Loss of facial adipose ... ORPHA:3455
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Simple ear OMIM:619318
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Sensorineural hearing impairment, Depression, Attention deficit hyperactivity di... ORPHA:250989
Trisomy 18
Omphalocele, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Camptodactyl... ORPHA:3380
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Optic atrophy, Microtia, Microphthalmia ORPHA:3301
Kapur-Toriello Syndrome
Camptodactyly of finger, Retinal coloboma, Low-set ears, Conductive hearing impairment, Microphth... OMIM:244300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Facial palsy, Optic nerve hypoplasia, Exocrine pancreatic insufficiency, Ab... ORPHA:508498
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... OMIM:149400
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Obesity, Retinal vascular tortuosity, Hypercholestero... OMIM:619471
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder OMIM:617914
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Abnormal pinna morphology, Camptodactyly of finger, Congenital dia... ORPHA:1692
Deafness, X-Linked 7
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy, Elevated circulating creatine kinase concentration OMIM:616538
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia OMIM:614619
Hydrolethalus
Low-set, posteriorly rotated ears, Microphthalmia, Anophthalmia, Low-set ears ORPHA:2189
Bartsocas-Papas Syndrome 2
Microphthalmia, Overfolded helix, Low-set ears OMIM:619339
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Ma... ORPHA:1578
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Microphthalmia, Microtia, Congenital diaphragmatic hernia OMIM:612530
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocy... OMIM:309801
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:600376
Ohdo Syndrome, X-Linked
Inguinal hernia, Posteriorly rotated ears, Hiatus hernia, Microtia, Low-set ears, Decreased body ... OMIM:300895
Fryns Syndrome
Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Large for gestational age, Stillbi... OMIM:229850
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Fanconi Anemia, Complementation Group L
Anotia, Microtia, Bone marrow hypocellularity, Low-set ears, Attention deficit hyperactivity diso... OMIM:614083
Meckel Syndrome
Low-set, posteriorly rotated ears, Accessory spleen, Anophthalmia, Abnormal chorioretinal morphol... ORPHA:564
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Abnormal pinna morphology, Posteriorly rotated ears, Spastic tetraparesis, Sensorineural hearing ... OMIM:616975
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... ORPHA:289176
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Large earlobe, Failure to thrive, Low-set ears OMIM:257850
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Congestive heart failure, Sensorineu... ORPHA:444077
Pelvis-Shoulder Dysplasia
Waddling gait, Abnormal pinna morphology, Camptodactyly of finger, Bilateral microphthalmos, Micr... ORPHA:2839
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal... OMIM:221900
Chromosome 8Q21.11 Deletion Syndrome
Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set ears, Camptodac... OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, ... OMIM:253280
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Cupped ear, Ocular albinism, Microtia, Myoclonus, Microphthalmia ORPHA:1352
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Macrotia, Optic atrophy OMIM:234050
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Posteriorly rotated ea... OMIM:300166
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Congenital diaphragmatic hernia ORPHA:1915
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Low-set ears, Abnormal T-wave, Failure to thrive, Limb h... ORPHA:444072
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Vocal cord paralysis, Glucose intolerance, Portal hypertension, ... OMIM:194050
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Tremor, Sensorineural hearing impairment, Protruding ear, Truncal obesity, ... OMIM:612474
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:607597
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Small for gestational age, Posterio... OMIM:612289
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Hiatus hernia, Abnormality of the spleen, Microphthalmia, Failure to ... ORPHA:2538
Meckel Syndrome, Type 2
Omphalocele, Microphthalmia, Bile duct proliferation OMIM:603194
Hallermann-Streiff Syndrome
Microphthalmia, Congestive heart failure, Abdominal situs inversus, Reduced bone mineral density ORPHA:2108
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab... OMIM:187300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration, Inguinal hernia, Uplifted earlobe OMIM:618548
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Low-set ears ORPHA:163966
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Low-set ears, Craniosynostosis OMIM:251230
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response, Hypertonia OMIM:272800
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pinna morphology, Cardiomegaly, Bilateral microphthalmos, R... ORPHA:3472
Charge Syndrome
Omphalocele, Mixed hearing impairment, Anophthalmia, Facial palsy, Aplasia of the semicircular ca... OMIM:214800
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Witteveen-Kolk Syndrome
Inguinal hernia, Hyperactivity, Small for gestational age, Poor motor coordination, Congenital di... OMIM:613406
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Camptodactyly of finger, Malformation of the hepatic ductal plate,... OMIM:249000
Duane-Radial Ray Syndrome
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Sensorineural hearing impairment, Ret... OMIM:607323
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Frontonasal Dysplasia 2
Low-set ears, Microphthalmia, Craniosynostosis OMIM:613451
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple central nervous system lipomas, Subcutan... OMIM:613001
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Teebi-Shaltout Syndrome
Small earlobe, Low-set ears, Camptodactyly, Microphthalmia, Hypoplastic helices, Aortic valve ste... OMIM:272950
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia, Cellulitis OMIM:153400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hearing impairment ORPHA:77298
Pallister-Hall Syndrome
Decreased circulating cortisol level, Posteriorly rotated ears, Microtia, Atresia of the external... OMIM:146510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Congenital contracture, Elevated circulating creatine kinase concent... OMIM:613150
Aicardi Syndrome
Retinal detachment, Hepatoblastoma, Hiatus hernia, Chorioretinal lacunae, Optic disc coloboma, Op... OMIM:304050
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, External ear malformation, Knee flexion contr... ORPHA:3103
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Uplifted earlobe, Asplenia, Flexion contracture, Abnormal repetitive mannerisms, EEG abnormality,... ORPHA:261537
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Stillbirth, Microphthalmia, Macrotia, Unicoronal synostosis OMIM:616300
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Optic disc coloboma, Low-set ears, Microphthalmia ORPHA:251014
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Charge Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Facial palsy, Hearing impairment, External ear m... ORPHA:138
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Scarring alopecia of scalp, Enamel hypoplasia, Optic atrophy OMIM:618727
Frontorhiny
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Microphthalmia, ... ORPHA:391474
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Sensorineural hearing impairment,... ORPHA:959
Fryns Syndrome
Omphalocele, Low-set, posteriorly rotated ears, Aganglionic megacolon, Congenital diaphragmatic h... ORPHA:2059
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Hearing impairment, Protruding ear ORPHA:1806
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
8Q21.11 Microdeletion Syndrome
Microphthalmia, Camptodactyly of finger, Low-set ears, Hearing impairment ORPHA:284160
Cousin Syndrome
Posteriorly rotated ears, Microtia, first degree, Low-set ears, Camptodactyly, Microphthalmia, Jo... OMIM:260660
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... ORPHA:353277
Rodrigues Blindness
Microphthalmia, Protruding ear OMIM:268320
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Small earlobe, Failure to thrive, Hearing impairment ORPHA:364577
Mowat-Wilson Syndrome
Uplifted earlobe, Asplenia, Flexion contracture, Conductive hearing impairment, Abnormal repetiti... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Asplenia, Flexion contracture, Abnormal repetitive mannerisms, EEG abnormality,... ORPHA:261552
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Decreased calvarial ossification, Microtia, Low-se... OMIM:617925
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Thickened helices, Microphthalmia, S... ORPHA:2714
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Vacterl With Hydrocephalus
Inguinal hernia, Microtia, third degree, Femoral hernia, Anophthalmia, Anotia, Abnormal optic ner... ORPHA:3412
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Overfolded helix, Posteriorly rotated ears, Low-set ears OMIM:156610
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity, EEG with generaliz... OMIM:618367
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Sensorineural hearing impairment, Spas... OMIM:206900
Pseudotrisomy 13 Syndrome
Omphalocele, Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:264480
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Anotia, Microtia, Atresia of the external auditory canal, Chorio... ORPHA:268249
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Inguinal hernia, Craniosynostosis, Cupped ear, Knee flexion contracture, Microphthal... OMIM:609945
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... OMIM:608232
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Hyperactivity, Small for gestational age, Optic ner... ORPHA:508488
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Large earlobe, Hypertonia, Hypoplasia of the ear cartilage, Microphthalmia ORPHA:1236
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Monosomy 9P
Congenital diaphragmatic hernia, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the ... ORPHA:261112
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Optic atrophy, Large earlobe, Camptodactyly of 2nd-5th fingers... ORPHA:1106
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Phthisis bulbi, Osteoporosis, Retinal calcification, Exudative retinopathy, Vitreoret... OMIM:259770
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Mixed hearing impairment, Anophthalmia, Congenital diaphragmatic he... OMIM:305600
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Microphtha... OMIM:606519
Steinfeld Syndrome
Absent gallbladder, Abnormal pinna morphology, Retinal coloboma, Microphthalmia, Hearing impairment OMIM:184705
Oculopalatocerebral Syndrome
Microphthalmia, Spasticity, Remnants of the hyaloid vascular system OMIM:257910
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Flexion contracture, Cupped ear, Microtia, Low-set ears, Microphtha... OMIM:263650
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Curry-Jones Syndrome
Microphthalmia, Bicoronal synostosis, Unicoronal synostosis OMIM:601707
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, Failure to thrive, Unilateral microphthalmos OMIM:618874
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Nance-Horan Syndrome
Microphthalmia, Macrotia OMIM:302350
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ears OMIM:617666
Basal Cell Nevus Syndrome 1
Microphthalmia, Irregular ossification of hand bones OMIM:109400
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Anteverted ears, Umbilical hernia, Chorioretinal coloboma, Low-set ears, Microph... OMIM:613884
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Mixed hearing impairment, Optic atrophy OMIM:201180
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia OMIM:248450
Branchiooculofacial Syndrome
Anophthalmia, Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Elbow fle... OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Abnormality of alkaline phosphatase level, Delayed ossification of carpal bones OMIM:300106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Failure... OMIM:608670
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Congestive heart failure, Increased body weight,... ORPHA:1359
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Cupped ear OMIM:110100
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear... OMIM:619539
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Umbilical hernia, Microphthalmia, Low-set, posteriorly rotated ears ORPHA:2166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Atresia of the external auditory canal, Microphthalmia, Hearing ... ORPHA:3186
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Uplifted earlobe, Macrotia, Protruding... OMIM:607932
Linear Nevus Sebaceus Syndrome
Microphthalmia, EEG abnormality ORPHA:2612
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Low-set ears, Congenital diaphragmatic hernia OMIM:273395
Adams-Oliver Syndrome 1
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st... OMIM:100300
Renpenning Syndrome 1
Cupped ear, Protruding ear, Joint contracture of the hand, Camptodactyly, Microphthalmia, Spastic... OMIM:309500
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Phace Syndrome
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Retinal vascular malformation, Mic... ORPHA:42775
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Abnormal pinna morphology, Stillbirth, Low-set ears, Microphthalmia OMIM:236680
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Ankle fl... OMIM:268300
Holoprosencephaly 7
Omphalocele, Microphthalmia, Macrotia, Bilateral microphthalmos OMIM:610828
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Prominent antihelix, Microphthalmia, Macrotia, Underdevelop... OMIM:610829
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia ORPHA:2250
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal... OMIM:603457
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Auricular tag, Large for gestational age, Dis... ORPHA:672
Neu-Laxova Syndrome 1
Macrotia, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Low-set ears, Campt... OMIM:256520
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 2
Posteriorly rotated ears, Uplifted earlobe, Microtia, Low-set ears, Microphthalmia, Overfolded helix OMIM:616734
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:141099
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Monosomy 13Q14
Protruding ear, Low-set ears, Thickened helices, Retinoblastoma, Microphthalmia ORPHA:1587
Fraser Syndrome
Omphalocele, Low-set, posteriorly rotated ears, Anophthalmia, External ear malformation, Atresia ... ORPHA:2052
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Conductive heari... ORPHA:306542
Mowat-Wilson Syndrome
Aganglionic megacolon, Uplifted earlobe, Cupped ear, Large earlobe, Pulmonic stenosis, Chorioreti... OMIM:235730
Fraser Syndrome 1
Anophthalmia, Abnormal pinna morphology, Cupped ear, Bilateral microphthalmos, Abnormal thymus mo... OMIM:219000
Microphthalmia, Syndromic 1
Anophthalmia, Abnormal pinna morphology, Aganglionic megacolon, Aggressive behavior, Optic disc c... OMIM:309800
Townes-Brocks Syndrome
External ear malformation, Abnormal tragus morphology, Microtia, Chorioretinal coloboma, Micropht... ORPHA:857
Isolated Arrhinia
Microphthalmia, Microtia ORPHA:1134
Frontofacionasal Dysplasia
Microphthalmia, Frontal cutaneous lipoma OMIM:229400
Holoprosencephaly 1
Microphthalmia, Hypoglycemia OMIM:236100
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170
Treacher Collins Syndrome 1
Conductive hearing impairment, Bilateral microphthalmos, Microtia, Atresia of the external audito... OMIM:154500
Craniofacial Microsomia 1
Anophthalmia, Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditor... OMIM:164210

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 Cldn12

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 Cldn12.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Myelin barrier breakdown, mechanical hypersensitivity, and painfulness in polyneuropathy with claudin-12 deficiency. Neurobiology of disease (July 2023) Cldn12tm1(KOMP)Vlcg 37527762
Targeted Deletion of the Claudin12 Gene in Mice Increases Articular Cartilage and Inhibits Chondrocyte Differentiation. Frontiers in endocrinology (July 2022) Cldn12tm1(KOMP)Vlcg PMC9354527
Claudin-12 Deficiency Inhibits Tumor Growth by Impairing Transendothelial Migration of Myeloid-Derived Suppressor Cells. Cancer research (July 2022) Cldn12tm1(KOMP)Vlcg 35580275
Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability. International journal of molecular sciences (March 2020) Cldn12tm1(KOMP)Vlcg PMC7139911
Claudin-12 is not required for blood-brain barrier tight junction function. Fluids and barriers of the CNS (September 2019) Cldn12tm1b(EUCOMM)Wtsi PMC6739961

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
Cldn12tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cldn12tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cldn12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cldn12tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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