Gene Summary

Name:
neuroligin 3
Synonyms:
NL3,  HNL3,  A230085M13Rik,  NLG3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal hemoglobin content Nlgn3em1(IMPC)Rbrc HEM Late adult 2.08×10-05
abnormal eosinophil cell number Nlgn3em1(IMPC)Rbrc HEM Late adult 9.33×10-14
decreased anxiety-related response Nlgn3em1(IMPC)Rbrc HOM Early adult 8.37×10-06
hyperactivity Nlgn3em1(IMPC)Rbrc HEM Early adult 3.93×10-10
abnormal locomotor activation Nlgn3em1(IMPC)Rbrc HEM Late adult 9.32×10-12
increased bone mineral density Nlgn3em1(IMPC)Rbrc HEM Early adult 3.56×10-08
abnormal neutrophil cell number Nlgn3em1(IMPC)Rbrc HOM Late adult 2.53×10-05
abnormal red blood cell distribution width Nlgn3em1(IMPC)Rbrc HEM Late adult 2.47×10-06
hyperactivity Nlgn3em1(IMPC)Rbrc HOM Early adult 2.52×10-25
abnormal hematocrit Nlgn3em1(IMPC)Rbrc HEM Late adult 3.95×10-06
abnormal blood uric acid level Nlgn3em1(IMPC)Rbrc HEM Late adult 1.61×10-07

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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.

Phenotype associated images not available

Human diseases caused by Nlgn3 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 Nlgn3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425

The table below shows human diseases predicted to be associated to Nlgn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... OMIM:614063
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia OMIM:618406
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter... ORPHA:168782
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Huntington Disease
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Mental deteriora... ORPHA:399
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia OMIM:612069
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Osteoporosis
Osteoporosis OMIM:166710
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Developmental And Epileptic Encephalopathy 97
Inability to walk, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Postnatal growth retardation, Abnormal fear-induced behavior, Chore... ORPHA:309246
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing OMIM:618760
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism OMIM:300434
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Abnormal r... ORPHA:561854
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors OMIM:620021
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Cdkl5-Deficiency Disorder
Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, Stereotypical hand wringing ORPHA:505652
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Stereotypical hand wringing ORPHA:397933
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Anosmia, Dementia, Gait disturbance, Dysphagia, Hyposmia OMIM:606693
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping OMIM:618147
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Anemia, Neutropenia OMIM:617056
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... ORPHA:411602
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Gait ataxia OMIM:619717
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Depressed nasal bridge, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:444002
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior ORPHA:391417
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance OMIM:618141
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Polyphagia OMIM:617885
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Inappropriate laughter OMIM:618859
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Dementia OMIM:607060
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... OMIM:619580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss of ambulation... ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Bardet-Biedl Syndrome 17
Hyposmia, Polydipsia, Anosmia, Cognitive impairment OMIM:615994
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Inability to walk, Stereotypical hand wringing, Bruxism OMIM:618497
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking ORPHA:280763
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe... ORPHA:449291
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Stereotypical hand w... OMIM:614254
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
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
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose OMIM:614838
Xq28 (MECP2) duplication
Gait ataxia, Inability to walk, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Abnormal repetitive mannerisms, Delirium ORPHA:927
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 79
Broad-based gait, Tongue thrusting, Gait ataxia OMIM:620393
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Christianson Syndrome
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms ORPHA:85278
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia OMIM:619317
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Musk, Inability To Smell
Anosmia OMIM:254150
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 51
Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Recurrent... OMIM:617788
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia OMIM:308950
Aural Atresia, Congenital
Hyposmia OMIM:607842
Atypical Rett Syndrome
Restrictive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Agitation, Inappropriate ... ORPHA:3095
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability OMIM:617864
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... OMIM:300986
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia OMIM:610628
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking ORPHA:320406
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Intellectual Developmental Disorder With Autism And Macrocephaly
Recurrent hand flapping, Pica OMIM:615032
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell m... ORPHA:760
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemia, Reticu... OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Superficial Siderosis
Ataxia, Partial anosmia, Unsteady gait, Anosmia, Limb ataxia, Dysmetria, Progressive gait ataxia,... ORPHA:247245
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Aggressive behavior ORPHA:382
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Intrauterine gr... OMIM:608747
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Ataxia OMIM:616881
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Akinesia OMIM:619147
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation OMIM:619422
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Gai... ORPHA:411511
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Gait disturbance, Bruxism OMIM:617903
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia OMIM:244200
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:618430
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Gait disturbance, Recurrent hand flapping, Obsessive-compulsive... ORPHA:544254
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Choanal atresia OMIM:147950
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Histidinemia
Hyperactivity ORPHA:2157
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance ORPHA:457240
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... OMIM:123450
Parkinson Disease 17
Akinesia OMIM:614203
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... ORPHA:778
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder ORPHA:64280
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Gm2-Gangliosidosis, Ab Variant
Chorea, Dementia, Exaggerated startle response, Dystonia OMIM:272750
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Aceruloplasminemia
Refractory anemia, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Hypochromic microcytic anemia ORPHA:48818
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia OMIM:261750
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b... OMIM:615656
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Rett Syndrome
Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Stereotypical hand wringing OMIM:312750
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... ORPHA:77259
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping OMIM:618916
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Short attention span ORPHA:391372
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Anemia, Leukopenia, Hyperuricemia, Thrombocytopenia OMIM:613845
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru... OMIM:300912
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility, Impulsivity OMIM:300143
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ... OMIM:617302
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Anosmia OMIM:601152
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia, Ataxia OMIM:308700
Whim Syndrome 1
Neutropenia OMIM:193670
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting ORPHA:77299
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Solitary Median Maxillary Central Incisor
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