Gene: Disc1 MGI:2447658

Log in to follow

Gene Summary

disrupted in schizophrenia 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Disc1em1(IMPC)Mbp HOM Early adult 5.73×10-05
enlarged heart Disc1em1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Disc1em1(IMPC)Mbp HOM   Early adult 6.77×10-05
abnormal heart morphology Disc1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Disc1em1(IMPC)Mbp HOM Early adult 0.00
increased prepulse inhibition Disc1em1(IMPC)Mbp HOM   Early adult 5.97×10-05
abnormal spleen morphology Disc1em1(IMPC)Mbp HOM Early adult 0.00
small kidney Disc1em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Disc1em1(IMPC)Mbp HOM Early adult 7.39×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Disc1 mutations

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

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

The table below shows human diseases associated to Disc1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703

The table below shows human diseases predicted to be associated to Disc1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Cognitive impairment ORPHA:79324
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618687
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Progressive neurologic deterioration, Diffuse white matter abnormalities, Diffuse swelling of cer... OMIM:613925
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Emotional lability, Abnormal cerebellum morphology, Cerebellar atrophy, Diffuse... OMIM:615362
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Mental deterioration, Cerebellar calcifications, Thalamic calcification OMIM:618824
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Dementia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, ... OMIM:618193
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dementia, Cerebellar atrophy, Periventricular leukomalacia, Progressive leukoencephalopat... OMIM:615889
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dystonia, Dysmetria, Memory impairm... OMIM:605361
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Distal 7Q11.23 Microdeletion Syndrome
Bipolar affective disorder, Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cognitive impairment, Cerebellar atrophy, Cerebral atrophy OMIM:616192
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Anxiety OMIM:128235
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy OMIM:615268
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Immunodeficiency 8
Hyperactivity OMIM:615401
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Dementia OMIM:212840
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Irritability OMIM:610003
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Impaired social interactions, Cerebral atrophy, Microcephaly OMIM:617051
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased th... OMIM:619072
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Epilepsy, Progressive Myoclonic, 8
Cognitive impairment, Dementia OMIM:616230
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus... OMIM:604213
Geniospasm 1
Anxiety OMIM:190100
Cardiomegaly OMIM:227150
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Mental deterioration OMIM:616187
Marburg Hemorrhagic Fever
Abnormal bleeding, Lethargy, Hematuria, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, ... ORPHA:99826
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Head tremor, Leukoencephalopathy, Intention tremor OMIM:613724
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Kaposiform Lymphangiomatosis
Abnormal bleeding, Multiple renal cysts, Epidural hemorrhage, Enlarged kidney, Pancreatic cysts, ... ORPHA:464329
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Craniofacial dystonia, Bradykinesia, Emotional lability, Torticollis, An... ORPHA:71517
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,... OMIM:604326
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Subcortical dementia, Resting tremo... ORPHA:157846
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Spinocerebellar Ataxia Type 12
Postural tremor, Dementia, Cerebral atrophy, Action tremor, Abnormal cerebellum morphology, Cereb... ORPHA:98762
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Dementia, Dysp... ORPHA:79264
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Pachygyria OMIM:606053
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Leukocytosis, Intracranial hemorrhage, Subconjunctival h... ORPHA:340
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Cataract, Spastic gait, Gait ataxia OMIM:617133
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Bipolar affective disorder, Aggressive behavi... ORPHA:3077
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Overfriendliness, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Dysphagia, Apathy, Cerebral atroph... ORPHA:135
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin... OMIM:258900
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Landau-Kleffner Syndrome
Memory impairment, Gait ataxia, Aggressive behavior, Depression, Emotional lability, Social and o... ORPHA:98818
Vulto-Van Silfhout-De Vries Syndrome
Poor eye contact, Gait disturbance, Aggressive behavior, Mood swings OMIM:615828
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Impaired social interactions, Temporal cortical atrophy, Frontal cortical atrophy, Poor eye conta... ORPHA:137831
Parkinsonism With Polyneuropathy
Anxiety, Bradykinesia, Depression OMIM:619279
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Irritability, Failure to... OMIM:618278
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Ataxia, Irritability, Anxiety, Dysmetria, Mental deterioration OMIM:618093
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Abnormal cerebellar vermis morphology, Type II lissencephaly, Emotion... ORPHA:300570
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Galactosuria OMIM:230200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dementia, Cerebral atrophy, Motor deterioration, Cerebellar atrophy, Hyp... ORPHA:1947
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Aggressive behavior, Dementia, Cerebral atrophy, Cerebellar atrophy OMIM:300894
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Ataxia OMIM:618970
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Failure to thrive, Splenomegaly, Leu... OMIM:615285
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder OMIM:618725
Retinal Venous Beading
Vitreous hemorrhage, Neutropenia, Saccular conjunctival dilatations, Retinal neovascularization, ... OMIM:180080
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal thalamic MRI signal intens... ORPHA:363558
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Aggressive behavior, Dementia, Cerebral atrophy, Iron accumulation in substantia nigra, C... ORPHA:329284
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Hyphema, Leukocoria, Iris c... OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Vitreous hemorrhage, Ciliary body melanoma, Zonular catarac... ORPHA:39044
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Abnormal hypothalamus morphology, Pituitary hypothyroidism, Abno... OMIM:614963
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin... ORPHA:231226
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykinesia, Anx... OMIM:168605
Rolandic Epilepsy
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability ORPHA:1945
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Progressive language deterioration, Hy... OMIM:610042
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cataract, Urinary excretion of sial... OMIM:256550
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Cataract, Pulmonary embolism, Congesti... ORPHA:1345
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Progressive psychomotor deterioration, Cerebellar atrophy, Dilated fourth ventricle, Cere... ORPHA:1170
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Cerebellar cyst, Olivopontocerebellar ... ORPHA:370959
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephrotic syndrome, Astigmatism, Cardio... OMIM:617713
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Cataract, Splenomegaly ORPHA:79238
Distal 7Q11.23 Microduplication Syndrome
Anxiety, Attention deficit hyperactivity disorder ORPHA:261102
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Exaggerated startle response, An... ORPHA:309246
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
1Q21.1 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot, Cataract, Attention deficit hyperactivity disorder ORPHA:250994
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Cerebellar atrophy, Secondary microcephaly, Abnormal basa... ORPHA:485421
Anemia ORPHA:655
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Ventricular septal defect OMIM:614876
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cognitive impairment, Memory impairment, Abnormal thalamic MRI signal intensity, Abnormal cerebel... ORPHA:70595
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Hypertension, Ataxia, Cataract, Congestive heart failure, Renal insuffic... ORPHA:225
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Senior-Loken Syndrome
Nephronophthisis, Hypertension, Ataxia, Cataract, Congenital hepatic fibrosis, Chronic kidney dis... ORPHA:3156
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Ataxia, Cataract, Congestive heart failure, Cardiomegaly, ... OMIM:266500
Congenital Atransferrinemia
Anemia ORPHA:1195
Tremor, Apathy, Abnormal thalamic MRI signal intensity, Cognitive impairment, Memory impairment, ... ORPHA:48818
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Combined Oxidative Phosphorylation Defect Type 23
Cognitive impairment, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal i... ORPHA:444013
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Nephropathy, Atrioventricular block, Cardiomegaly, Cardiom... ORPHA:85447
Hsd10 Disease
Dysphagia, Abnormal social behavior, Frontotemporal cerebral atrophy, Microcephaly, Focal white m... ORPHA:391417
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Subcapsular cataract OMIM:601813
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Hepatospleno... OMIM:618963
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Aggressive beh... ORPHA:83597
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Hepatomegaly, Left bund... OMIM:115197
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Young-Onset Parkinson Disease
Impaired social interactions, Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic attack,... ORPHA:2828
Microcytic anemia, Thrombocytopenia, Irritability, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Anxiety, Attention deficit hyperactivity disorder OMIM:618906
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Memory impairment, Frontotemporal dementia, Dementia OMIM:619132
Familial Atrial Myxoma
Tricuspid regurgitation, Cholestasis, Cardiac myxoma, Jaundice, Heart murmur, Congestive heart fa... ORPHA:615
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cer... ORPHA:280763
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage, Subcapsular cataract OMIM:133780
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortica... ORPHA:2570
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly OMIM:613673
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Dilated fourth ventricle, Elongated super... ORPHA:370022
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cardiomyopathy, Thrombocytopenia, Cataract, 3-Methylglutaconic aciduria ORPHA:67048
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Macrovesicular hepatic steatosis, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, ... OMIM:600649
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Carnitine Deficiency, Systemic Primary
Lethargy, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine level in liver, Hepa... OMIM:212140
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Broad-based gait, Hyperactivity OMIM:617865
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Retinal neovascularization, Microcornea, Pulverulent cataract, Vitreous hemorrhage OMIM:193220
Combined Oxidative Phosphorylation Defect Type 7
Cognitive impairment, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpholog... ORPHA:254930
Juvenile Xanthogranuloma
Hyphema, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis ORPHA:158000
Japanese Encephalitis
Abnormality of thalamus morphology, Pill-rolling tremor, Tremor, Focal T2 hyperintense thalamic l... ORPHA:79139
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Pulmonary hemorrhage, Arrhythmia, Acute kidney injury, Pericarditis, Hypotension, Subconjunctival... ORPHA:509
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Lethargy, Hepatic steatosis, Ataxia, Hepatomegaly, Fatigable weakness, Cardiomegaly, ... ORPHA:42
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Rasmussen Subacute Encephalitis
Inability to walk, Emotional lability, Irritability, Hemidystonia, Hyperactivity, Memory impairme... ORPHA:1929
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Poor eye contact, Focal T2 hyperintense thalamic lesion OMIM:619046
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly, Nephr... OMIM:269920
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy OMIM:615418
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Neutropenia, Anemia, Splenomegaly OMIM:602079
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Reduced systolic function, Hepatomegaly, Cataract, Pancreat... OMIM:618805
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Lethargy, Pulmonary arterial hypertension OMIM:619064
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Hypertension, Cere... OMIM:618886
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization OMIM:193235
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Lack of pe... ORPHA:1942
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Mulibrey Nanism
Myocardial fibrosis, Iris coloboma, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericar... OMIM:253250
Hemochromatosis, Type 4
Cardiomyopathy, Cataract, Arrhythmia, Anemia OMIM:606069
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, 3-Methylglutaconic aciduria, ... OMIM:619259
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Lethargy, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomegaly OMIM:255120
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Adenylosuccinase Deficiency
Inability to walk, Self-mutilation, Gait ataxia, Inappropriate laughter, Aggressive behavior, Poo... OMIM:103050
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Falls, Anxiety ORPHA:3198
Fusion of the left and right thalami, Septo-optic dysplasia, Fusion of the cerebellar hemispheres... ORPHA:59315
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Senior-Loken Syndrome 1
Polydipsia, Anemia OMIM:266900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Tay-Sachs Disease
Tremor, Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal intensity, Ce... ORPHA:845
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Anxiety, Cognitive impairment, Suicidal ideation, Attention defi... ORPHA:98784
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Weight loss, Splenomegaly ORPHA:100024
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Lymphadenopathy ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Lethargy, Hepatocellular necrosis, Hepatic steatosis, Periportal fibro... OMIM:201475
Peroxisome Biogenesis Disorder 9B
Cataract, Ataxia, Cardiomyopathy OMIM:614879
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia, Failure to thrive OMIM:616740
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Presenile... ORPHA:182050
Progeria-Short Stature-Pigmented Nevi Syndrome
Cognitive impairment, Microcephaly, Abnormality of thalamus morphology ORPHA:2959
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Cerebellar atrophy, Exaggerated startle response OMIM:618367
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Dilated cardiomyopathy, Lethargy, Enlarged kidney... OMIM:608836
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Difficulty walking, Toe walking, Ataxia, Urinary urgency, Spastic gait, Cataract, Dysme... OMIM:609195
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Subretinal pigment epithelium hemorrhage, Heterochromia iridis, Leukocoria, Hypopyon, Vitreous he... ORPHA:790
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Failure to thrive, Splenomegaly OMIM:615085
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Supraventricular arrhythmia, Nephropathy, Renal cyst, Renal insufficiency, Retinal hem... OMIM:611773
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Cerebral atrophy, Dementia OMIM:272750
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Mevalonic Aciduria
Cataract, Ataxia, Splenomegaly ORPHA:29
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Chromosome 22Q13 Duplication Syndrome
Bipolar affective disorder, Attention deficit hyperactivity disorder OMIM:615538
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Exaggerated startle response, Cortical ... OMIM:615574
Leigh Syndrome
Progressive neurologic deterioration, Focal T2 hyperintense basal ganglia lesion, Hypoplasia of t... ORPHA:506
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Transketolase Deficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Increased level of ri... ORPHA:488618
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Hepatocellular carcinoma, Hepatomegaly, Congestive heart failure, Cardiome... OMIM:235200
Gerstmann-Straussler Disease
Tremor, Aggressive behavior, Dementia, Neurofibrillary tangles, Emotional lability, Cerebellar at... OMIM:137440
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of the left and right thalami, ... OMIM:619306
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Atrial flutter, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Failure to thrive, Leukopenia, Anemia ORPHA:33355
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, ... OMIM:603903
Gaucher Disease, Type Ii
Dysphagia, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive OMIM:230900
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Senior-Loken Syndrome 4
Polydipsia, Anemia OMIM:606996
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Peters anomaly, Cardiom... OMIM:618652
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Anemia OMIM:184850
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Opacification of the corneal stroma, Mitr... OMIM:231005
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Failure to thrive ORPHA:28
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypoplasia of the frontal lobes ORPHA:163985
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Jaundice, Cataract, Splenomegaly OMIM:608885
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Ataxia, Normocytic a... ORPHA:33226
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Dementia, Dysphagia, Hypopl... ORPHA:2822
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Hy... OMIM:252900
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Abnormal cardiac septum morphology, Attention deficit hyperactivity ... OMIM:614294
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Tonne-Kalscheuer Syndrome
Shyness, Aggressive behavior, Dysphagia, Self-injurious behavior, Anxiety, Microcephaly OMIM:300978
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia OMIM:612561
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Abnormal bleeding, Cirrhosis, Dystonia, Lethargy, Gait disturbance, Ataxia, Hepatomegaly, Jaundic... ORPHA:352
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Anxiety ORPHA:404440
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Renovascular hypertension, Angina pectori... OMIM:264800
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity, Cogniti... ORPHA:363400
Weill-Marchesani Syndrome
Ventricular septal defect, Ectopia lentis, Cataract, Aortic valve stenosis, Pulmonic stenosis, Mi... ORPHA:3449
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... ORPHA:2495
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity OMIM:616809
Histiocytoid Cardiomyopathy
Congenital aphakia, Lethargy, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial f... ORPHA:137675
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Depression, Progressive gait ataxia, Difficulty walking, Abnormal social beha... ORPHA:309271
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability ORPHA:30925
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Progressive psyc... ORPHA:309263
Coffin-Siris Syndrome 7
Hyperactivity, Abnormal cardiac septum morphology, Abnormal heart morphology OMIM:618027
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Lethargy, Hepatocellular carcinoma, Elevated jugular venous pressure, Hepa... ORPHA:465508
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Ataxia, Urinary incontinence, Cardiomegaly,... OMIM:105210
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... OMIM:604278
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivit... OMIM:123450
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:300354
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Tropical Endomyocardial Fibrosis
P pulmonale, Atrial flutter, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Juvenile Sialidosis Type 2
Abnormal heart morphology, Loss of ability to walk, Visceromegaly, Corneal opacity, Ataxia, Hepat... ORPHA:93399
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Exaggerated startle response, Microcephaly OMIM:618201
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Iris coloboma, Ectopia pupillae, Vesicoureteral reflux, Pelvic kidney, Micropenis, Webbe... ORPHA:261552
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Atrial septal defect, Attention deficit hyperactivity disorder, Abnormal heart mor... ORPHA:352490
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive OMIM:619151
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Beta-Thalassemia Major
Hypochromic microcytic anemia, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin... ORPHA:231214
47,Xyy Syndrome
Impaired social interactions, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Mend Syndrome
Cataract, Aortic valve stenosis, Hyperactivity OMIM:300960
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Facial telangiectasia, Ventricular septal defect, Hepatomegaly, Histiocytos... OMIM:602782
Cockayne Syndrome Type 3
Neurogenic bladder, Lentiglobus, Hydroureter, Renal hypoplasia, Difficulty walking, Subdural hemo... ORPHA:90324
Congenital Sialidosis Type 2
Developmental cataract, Abnormal heart morphology, Corneal opacity, Ataxia, Hepatomegaly, Catarac... ORPHA:93400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Abnormal endocardium mo... ORPHA:758
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Abnormal concentration of acylcarnitine in the urine, Cardiome... ORPHA:391428
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hyperactivity ORPHA:3306
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Pollakisuria, Right ventricular hypertrophy, Cardio... ORPHA:268
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaund... OMIM:614866
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Lattice corneal dystrophy, Abno... ORPHA:85448
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Ataxia, Hyperactivity OMIM:300912
Alport Syndrome 2, Autosomal Recessive
Hematuria, Anterior lenticonus, Corneal erosion, Hypertension, Cataract, Stage 5 chronic kidney d... OMIM:203780
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Central diabetes insipidus OMIM:304900
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal ... ORPHA:86839
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Heart block, Arrhythmia, Cystic renal dysplasia, Hepatic steatosis, Renal tubula... ORPHA:228308
Mucopolysaccharidosis Type 3
Corneal opacity, Progressive inability to walk, Cardiomegaly, Hyperactivity, Abnormal myocardium ... ORPHA:581
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Failure ...