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Gene: Nlgn3 MGI:2444609

Gene Summary

Name:

neuroligin 3

Synonyms:

NL3, HNL3, A230085M13Rik, NLG3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eosinophil cell number	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	9.33×10^-14
increased bone mineral density	Nlgn3^{em1(IMPC)Rbrc}	HEM	Early adult	3.56×10^-08
hyperactivity	Nlgn3^{em1(IMPC)Rbrc}	HEM	Early adult	3.93×10^-10
abnormal hematocrit	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	3.95×10^-06
decreased anxiety-related response	Nlgn3^{em1(IMPC)Rbrc}	HOM	Early adult	8.37×10^-06
abnormal blood uric acid level	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	1.61×10^-07
abnormal neutrophil cell number	Nlgn3^{em1(IMPC)Rbrc}	HOM	Late adult	2.53×10^-05
abnormal locomotor activation	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	9.32×10^-12
hyperactivity	Nlgn3^{em1(IMPC)Rbrc}	HOM	Early adult	2.52×10^-25
abnormal red blood cell distribution width	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	2.47×10^-06
abnormal hemoglobin content	Nlgn3^{em1(IMPC)Rbrc}	HEM	Late adult	2.08×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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.

Human diseases associated with Nlgn3 (1 diseases)
Human diseases predicted to be associated with Nlgn3 (962 diseases)

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	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	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia	OMIM:300486
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri...	ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Congenital Myopathy 9A	Akinesia	OMIM:618822
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia	OMIM:306000
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Abnormality of the sense of smell	OMIM:616113
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Repetitive compulsive behavior, Inability to walk, Bruxism, Dysphagia, Abnormal repetitiv...	OMIM:300260
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Tip-toe gait, Attentio...	ORPHA:293939
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619435
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Hypouricemia, Ataxia	ORPHA:1187
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti...	ORPHA:77297
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Unsteady gait, Recurrent hand flapping, Pica	OMIM:618480
Kallmann Syndrome With Spastic Paraplegia	Anosmia, Ataxia	OMIM:308750
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Intellectual Developmental Disorder, Autosomal Dominant 52	Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica	OMIM:617796
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde...	OMIM:619312
Optic Atrophy-Intellectual Disability Syndrome	Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors	ORPHA:401777
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder...	OMIM:300352
Johnson Neuroectodermal Syndrome	Bulbous nose, Anosmia, Choanal atresia	ORPHA:2316
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, I...	OMIM:618476
Corticobasal Syndrome	Gait disturbance, Akinesia	ORPHA:454887
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:3222
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Refsum Disease	Anosmia, Ataxia	ORPHA:773
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Bruxism	OMIM:615716
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Gaucher Disease, Perinatal Lethal	Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia	OMIM:608013
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Anemia	OMIM:246450
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Dense calvaria, Joint stiffness, Aggressive behavior	OMIM:252920
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Sandhoff Disease	Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Impaired temperature...	OMIM:268800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,...	ORPHA:476126
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Cystinosis	Polydipsia, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:213
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia	ORPHA:98795
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi...	OMIM:131300
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Smith-Magenis Syndrome	Self-injurious behavior, Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hype...	ORPHA:819
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Akinesia, Acanthocytosis	OMIM:618947
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Prog...	ORPHA:309271
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Perry Syndrome	Short stepped shuffling gait, Akinesia	OMIM:168605
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait	ORPHA:247234
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Kallmann Syndrome	Hyposmia, Anosmia, Ataxia, Gait disturbance	ORPHA:478
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
8Q21.11 Microdeletion Syndrome	Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Meningioma	Ataxia, Abnormality of the sense of smell, Emotional lability, Transient global amnesia, Cognitiv...	ORPHA:2495
Proximal 16P11.2 Microdeletion Syndrome	Choreoathetosis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:261197
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Septo-Optic Dysplasia Spectrum	Polydipsia, Anosmia	ORPHA:3157
Manganese Poisoning	Gait disturbance, Akinesia	ORPHA:306682
Lesch-Nyhan Syndrome	Choreoathetosis, Hyperuricemia, Megaloblastic anemia	OMIM:300322
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:619575
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Rett Syndrome, Congenital Variant	Athetosis, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Classic Progressive Supranuclear Palsy Syndrome	Falls, Gait imbalance, Akinesia	ORPHA:240071
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Holoprosencephaly	Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa...	ORPHA:2162
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Amoebiasis Due To Free-Living Amoebae	Restlessness, Ataxia, Confusion, Irritability, Hyposmia	ORPHA:68
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis	ORPHA:94089
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l...	ORPHA:309263
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repeti...	OMIM:616364
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting...	ORPHA:72
Oromandibular Dystonia	Dysphagia, Bruxism	ORPHA:93958
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive manner...	OMIM:619229
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis	OMIM:259720
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:457279
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus, Depression	OMIM:184850
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Wide nose, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Unsteady gait, Dysmetria,...	ORPHA:314647
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Bruxism, Abnormal repetit...	OMIM:606232
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica...	OMIM:212066
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Dysphagia, A...	ORPHA:319182
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Congenital Myopathy 12	Akinesia	OMIM:612540
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Moebius Syndrome	Abnormality of the sense of smell, Dysphagia	ORPHA:570
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
48,Xxxy Syndrome	Depressed nasal ridge, Irritability, Attention deficit hyperactivity disorder, Abnormal social be...	ORPHA:96263
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Choreoathetosis, Gait disturbance	OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Erdheim-Chester Disease	Polydipsia, Osteomyelitis, Increased bone mineral density, Osteolysis	ORPHA:35687
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia	ORPHA:364
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Poems Syndrome	Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone	ORPHA:2905
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab...	ORPHA:90652
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Inability to walk, Abnormal repetitive mannerisms, Short attention span	ORPHA:300570
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis	ORPHA:33364
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Wilson Disease	Hyposmia, Dementia, Dysphagia	OMIM:277900
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Ataxia, Hyperuricemia	ORPHA:134
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Ect...	ORPHA:79443
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Leukocytosis, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Postencephalitic Parkinsonism	Akinesia	ORPHA:97349
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hyposmia, Anosmia, Absent nares, Single naris	ORPHA:2250
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Increased bone mineral density, Polyphagia	ORPHA:79444
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia	ORPHA:829
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
9P13 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Bruxism	ORPHA:324313
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri...	ORPHA:522077
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Head-banging, Abnormal so...	ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation	OMIM:259775
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Glycogen Storage Disease V	Hyperuricemia	OMIM:232600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hyperuricemia, Anemia	OMIM:174000
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det...	ORPHA:580
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior	ORPHA:309256
Nmda Receptor Encephalitis	Short attention span, Confusion, Hypersexuality, Choreoathetosis, Agitation, Memory impairment, A...	ORPHA:217253
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyperuricemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Fg Syndrome Type 1	Broad-based gait, Choanal atresia, Prominent nose, Compulsive behaviors, Attention deficit hypera...	ORPHA:93932
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Ataxia, Dysphagia	ORPHA:496641
Bainbridge-Ropers Syndrome	Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge	ORPHA:251066
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Broad-based gait, Ataxia, Short attention span, Impulsivity,...	OMIM:619475
Dpagt1-Cdg	Anemia, Inability to walk, Ataxia, Akinesia	ORPHA:86309
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, Ataxia	OMIM:609136
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity	OMIM:301030
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess	OMIM:612852
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita	OMIM:602398
Dilated Cardiomyopathy With Ataxia	Repetitive compulsive behavior, Ataxia	ORPHA:66634
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Xanthinuria, Type Ii	Hypouricemia	OMIM:603592
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Niemann-Pick Disease Type C	Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi...	ORPHA:646
Charge Syndrome	Depressed nasal bridge, Choanal atresia, Anosmia, Compulsive behaviors, Attention deficit hyperac...	ORPHA:138
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hyperuricemia	ORPHA:79083
Occipital Horn Syndrome	Abnormality of the sense of smell, Dysphagia	ORPHA:198
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ...	OMIM:617330
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia	ORPHA:261222
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	ORPHA:411543
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cognitive impairment, Dysphagia	OMIM:617527
Choreoacanthocytosis	Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Morgagni-Stewart-Morel Syndrome	Hyperuricemia	ORPHA:77296
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:464311
Cystinuria	Hyperuricemia	ORPHA:214
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia	OMIM:619777
Dihydropyrimidine Dehydrogenase Deficiency	Depressed nasal bridge, Anteverted nares, Inability to walk, Irritability, Prominent nasal tip, A...	ORPHA:1675
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Lipodystrophy, Familial Partial, Type 3	Hyperuricemia	OMIM:604367
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio...	OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
Bosma Arhinia Microphthalmia Syndrome	Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity	OMIM:620047
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Neutropenia	OMIM:232220
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Supranuclear Palsy, Progressive, 2	Falls, Gait imbalance, Akinesia	OMIM:609454
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Leopard Syndrome 1	Hyposmia, Depressed nasal ridge	OMIM:151100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Waardenburg Syndrome, Type 4C	Anosmia	OMIM:613266
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Gait disturbance	ORPHA:464306
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:508533
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy...	ORPHA:904
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Self-injurious b...	ORPHA:805
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm...	ORPHA:513456
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Abscess, Increased circulating myelocyte count, Thromb...	ORPHA:36234
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:617303
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Supranuclear Palsy, Progressive, 1	Falls, Gait imbalance, Akinesia	OMIM:601104
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Hyper-Igd Syndrome	Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly	OMIM:260920
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia	ORPHA:95409
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Hyperuricemia, Thrombocytopenia	ORPHA:94093
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperuricemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Leukocyte Adhesion Deficiency Type Ii	Leukocytosis, Neutrophilia, Anemia, Microcytic anemia	ORPHA:99843
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia, Dysphagia	ORPHA:2363
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Hypouricemia, Renal, 1	Hypouricemia	OMIM:220150
Molybdenum Cofactor Deficiency, Complementation Group C	Hypouricemia	OMIM:615501
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density	ORPHA:667
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia	ORPHA:35909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Japanese Encephalitis	Neutrophilia	ORPHA:79139
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Familial Mediterranean Fever	Splenomegaly, Leukocytosis, Neutrophilia	OMIM:249100
Glycogen Storage Disease Ic	Hyperuricemia, Cyclic neutropenia	OMIM:232240
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Pear-shaped n...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Pear-shaped n...	ORPHA:363958
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Mend Syndrome	Hyperactivity, Prominent nasal bridge, Aggressive behavior, Abnormal nasal bridge morphology, Abn...	ORPHA:401973
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia	OMIM:616026
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ...	ORPHA:534
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Addison Disease	Normocytic anemia, Thiamine-responsive megaloblastic anemia, Hyperuricemia	ORPHA:85138
Alstrom Syndrome	Hyperuricemia	OMIM:203800
Fructose-1,6-Bisphosphatase Deficiency	Hyperuricemia	ORPHA:348
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
African Trypanosomiasis	Akinesia, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Gait disturbance, Difficulty walking	ORPHA:3385
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Hyperuricemia	ORPHA:79233
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Hereditary Xanthinuria	Hypouricemia	ORPHA:3467
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia	OMIM:616268
Charge Syndrome	Anosmia, Choanal atresia, Self-mutilation, Dysphagia	OMIM:214800
Hereditary Renal Hypouricemia	Hypouricemia	ORPHA:94088
Phosphoribosylpyrophosphate Synthetase Superactivity	Ataxia, Hyperuricemia	OMIM:300661
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
Ogden Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:300855
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
1P36 Deletion Syndrome	Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms	ORPHA:1606
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Vici Syndrome	Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:242840
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Cockayne Syndrome	Ataxia, Inability to walk, Splenomegaly, Progressive gait ataxia, Gait disturbance, Hyperuricemia...	ORPHA:191
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Cohen Syndrome	Neutropenia	ORPHA:193
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper...	OMIM:259050
Molybdenum Cofactor Deficiency, Complementation Group B	Hypouricemia	OMIM:252160
Fanconi-Bickel Syndrome	Hypouricemia	OMIM:227810
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia	OMIM:252150
Norrie Disease	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:649
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Rothmund-Thomson Syndrome	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:2909
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Eisenmenger Syndrome	Brain abscess, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular ...	ORPHA:97214
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Rothmund-Thomson Syndrome Type 1	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221008
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Glycogen Storage Disease Ia	Hyperuricemia	OMIM:232200
Hereditary Fructose Intolerance	Hyperuricemia	ORPHA:469
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp...	ORPHA:438213
Rothmund-Thomson Syndrome Type 2	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221016
Cartilage-Hair Hypoplasia	Anemia, Neutropenia	ORPHA:175
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms	OMIM:619325
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto...	ORPHA:699
Hypomagnesemia 3, Renal	Hyperuricemia	OMIM:248250
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms	OMIM:194190
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hyperuricemia	ORPHA:93111
Juvenile Nephropathic Cystinosis	Hypouricemia	ORPHA:411634
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:261537
Renal Cysts And Diabetes Syndrome	Hyperuricemia	OMIM:137920
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:261552
Fructose Intolerance, Hereditary	Hyperuricemia	OMIM:229600
Primary Fanconi Renotubular Syndrome	Hypouricemia	ORPHA:3337
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Sponastrime Dysplasia	Neutropenia	ORPHA:93357

Histopathology

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

There is no histopathology data for Nlgn3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nlgn3.

No publications found that use IMPC mice or data for Nlgn3.

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

MGI Allele	Allele Type	Produced
Nlgn3^{tm241191(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nlgn3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Nlgn3^{em1(IMPC)Rbrc}	Intra-exon deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nlgn3 MGI:2444609

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Nlgn3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data