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

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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.

Phenotype associated images not available

Human diseases caused by Nlgn3 mutations

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

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

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	Similarity of phenotypes	Matching phenotypes	Source
Carbimazole Sensitivity		Drug-induced agranulocytosis	OMIM:212060
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7		Attention deficit hyperactivity disorder, Depression	OMIM:613003
Attention Deficit-Hyperactivity Disorder		Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8		Attention deficit hyperactivity disorder	OMIM:619957
Schizophrenia 15		Hyperactivity	OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities		Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Undritz Anomaly		Hypersegmentation of neutrophil nuclei	OMIM:191500
Asperger Syndrome, Susceptibility To, 1		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)		Short attention span, Hyperactivity	DECIPHER:19
Autism, Susceptibility To, X-Linked 4		Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)		Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3		Short attention span, Hyperactivity	OMIM:608443
Gilles De La Tourette Syndrome		Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Autism, Susceptibility To, X-Linked 3		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Hemoglobin D Disease		Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Autism, Susceptibility To, 20		Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Smith-Magenis syndrome		Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Autism		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Atr-16 syndrome		Abnormal erythrocyte morphology	DECIPHER:65
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia		Increased bone mineral density	OMIM:250500
Hemoglobin-Delta locus		Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intellectual Developmental Disorder, X-Linked 72		Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
12q14 microdeletion syndrome		Osteopoikilosis	DECIPHER:76
Intellectual Developmental Disorder, Autosomal Recessive 37		Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hemoglobin E-Beta-Thalassemia Syndrome		Abnormal hemoglobin, Anemia	ORPHA:231249
Pyknoachondrogenesis		Increased bone mineral density	OMIM:265880
Diamond-Blackfan Anemia 18		Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome		Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Thalassemia, Beta+, Silent Allele		Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1		Persistence of hemoglobin F	OMIM:141749
Osteomesopyknosis		Increased bone mineral density	OMIM:166450
Intellectual Developmental Disorder With Autism And Speech Delay		Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Melorheostosis, Isolated		Hyperostosis, Increased bone mineral density	OMIM:155950
Diamond-Blackfan Anemia 19		Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Ribbing Disease		Diaphyseal sclerosis	OMIM:601477
Osteopoikilosis And Dacryocystitis		Osteopoikilosis	OMIM:166705
Obsessive-Compulsive Disorder		Collectionism, Compulsive behaviors, Skin-picking, Depression	OMIM:164230
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin		Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults		Acute myeloid leukemia, Neutropenia	OMIM:607847
N-Acetylaspartate Deficiency		Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner...	OMIM:614063
Chromosome 15Q11-Q13 Duplication Syndrome		Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 2		Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Neutropenia, Severe Congenital, 2, Autosomal Dominant		Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia-Monocytopenia-Deafness Syndrome		Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Intellectual Developmental Disorder, Autosomal Recessive 58		Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Delta-Beta-Thalassemia		Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Acetophenetidin Sensitivity		Hemolytic anemia, Methemoglobinemia	OMIM:200300
Parasomnia, Sleep Bruxism Type		Bruxism	OMIM:606840
Hemoglobin H Disease		Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Autism, Susceptibility To, X-Linked 2		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Beta-Thalassemia, Dominant Inclusion Body Type		Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome		Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neutropenia, Severe Congenital, 7, Autosomal Recessive		Neutropenia	OMIM:617014
Methemoglobinemia, Beta Type		Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type		Methemoglobinemia	OMIM:617973
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures		Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Neutrophilia, Hereditary		Splenomegaly, Neutrophilia	OMIM:162830
Anemia, Sideroblastic, 4		Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome		Increased bone mineral density	ORPHA:75325
Neutropenia, Lethal Congenital, With Eosinophilia		Eosinophilia, Neutropenia	OMIM:257100
Specific Granule Deficiency 1		Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Ossification Of The Posterior Longitudinal Ligament Of Spine		Ectopic ossification, Increased bone mineral density	OMIM:602475
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome		Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Buschke-Ollendorff Syndrome		Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Dacryocystitis-Osteopoikilosis Syndrome		Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures		Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Intellectual Developmental Disorder, X-Linked 109		Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders		Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Fraxe Intellectual Disability		Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Dentin Dysplasia		Increased bone mineral density	ORPHA:1653
Intellectual Developmental Disorder, Autosomal Recessive 66		Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Hemoglobin E Disease		Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Iron-Refractory Iron Deficiency Anemia		Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia		Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Pick Disease Of Brain		Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m...	OMIM:172700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome		Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Myelolymphatic Insufficiency		Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Hyperprolinemia, Type I		Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency		Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Body Mass Index Quantitative Trait Locus 20		Increased bone mineral density, Polyphagia	OMIM:618406
Osteomesopyknosis		Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Childhood Disintegrative Disorder		Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter...	ORPHA:168782
Intellectual Developmental Disorder, X-Linked 77		Hyperactivity	OMIM:300454
Tn Polyagglutination Syndrome		Abnormal erythrocyte morphology	OMIM:300622
Melorheostosis With Osteopoikilosis		Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Alpha-Thalassemia Myelodysplasia Syndrome		Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hypophosphatemic Rickets, Autosomal Recessive, 1		Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Anemia, Congenital Dyserythropoietic, Type Ib		Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7		Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Pandas		Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Van Buchem Disease		Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Behavioral Variant Of Frontotemporal Dementia		Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality		Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Congenital Amegakaryocytic Thrombocytopenia		Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Osteosclerotic Metaphyseal Dysplasia		Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Hyperlysinemia, Type I		Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Huntington Disease		Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Mental deteriora...	ORPHA:399
Cyclic Neutropenia		Cyclic neutropenia	OMIM:162800
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia		Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia	OMIM:612069
X-Linked Severe Congenital Neutropenia		Monocytopenia, Neutropenia	ORPHA:86788
Overhydrated Hereditary Stomatocytosis		Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures		Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms	OMIM:619150
Intellectual Developmental Disorder, Autosomal Dominant 33		Hyperactivity	OMIM:616311
Hyperostosis Corticalis Generalisata		Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Isolated Osteopoikilosis		Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy		Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Kleine-Levin Syndrome		Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type		Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities		Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities		Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features		Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Developmental And Epileptic Encephalopathy 58		Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Developmental And Epileptic Encephalopathy 107		Abnormal repetitive mannerisms	OMIM:620033
Immunodeficiency 53		Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Neutropenia, Severe Congenital, 1, Autosomal Dominant		Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Cyanosis, Transient Neonatal		Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures		Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies		Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Dentin Dysplasia With Sclerotic Bones		Cortical sclerosis	OMIM:125440
Autism, Susceptibility To, 3		Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Heinz Body Anemias		Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Erythrocytosis, Familial, 3		Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 8		Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Endosteal Hyperostosis, Worth Type		Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Erythrocytosis, Familial, 5		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Alpha-Thalassemia-Myelodysplastic Syndrome		Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Erythrocytosis, Familial, 6		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Osteosclerosis With Ichthyosis And Fractures		Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Developmental And Epileptic Encephalopathy 30		Abnormal repetitive mannerisms	OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 54		Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency		Neutropenia	ORPHA:70592
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency		Hyperuricemia, Anemia	ORPHA:371
Immunodeficiency 50		Lymphopenia, Neutropenia	OMIM:300988
Whim Syndrome 2		Chronic neutropenia	OMIM:619407
Anemia, Sideroblastic, 5		Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Erythrocytosis, Familial, 7		Increased hematocrit, Polycythemia	OMIM:617981
Flynn-Aird Syndrome		Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Alpha-Thalassemia		Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia		Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Erythrocytosis, Familial, 4		Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Alpha-Thalassemia		Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Developmental And Epileptic Encephalopathy 43		Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome		Hyperactivity, Abnormal social behavior	ORPHA:436151
Osteopetrosis, Autosomal Dominant 1		Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome		Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, Sideroblastic, 3, Pyridoxine-Refractory		Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 39		Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Chromosome 3Q29 Deletion Syndrome		Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 38		Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Cortical Dysplasia, Complex, With Other Brain Malformations 2		Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Osteoporosis		Osteoporosis	OMIM:166710
Obesity, Hyperphagia, And Developmental Delay		Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive		Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Anemia, Congenital Dyserythropoietic, Type Iv		Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hartnup Disorder		Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Melorheostosis		Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome		Increased bone mineral density, Craniosynostosis	ORPHA:178377
Eosinophilia, Familial		Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia		Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Developmental And Epileptic Encephalopathy 97		Inability to walk, Stereotypical hand wringing	OMIM:619561
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type		Hyperactivity, Inflexible adherence to routines	OMIM:301076
Anemia, Congenital Dyserythropoietic, Type Ia		Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Short Stature, Developmental Delay, And Congenital Heart Defects		Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Osteochondrosis Of The Metatarsal Bone		Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Gm2 Gangliosidosis, Ab Variant		Exaggerated startle response, Postnatal growth retardation, Abnormal fear-induced behavior, Chore...	ORPHA:309246
Young-Onset Parkinson Disease		Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag...	ORPHA:2828
Sclerosteosis		Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Developmental And Epileptic Encephalopathy 104		Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Trichodentoosseous Syndrome		Increased bone mineral density	OMIM:190320
Felty Syndrome		Splenomegaly, Neutropenia	OMIM:134750
Mueller-Weiss Syndrome		Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Polycythemia Vera		Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Lesch-Nyhan Syndrome		Hyperuricemia, Anemia	ORPHA:510
Diamond-Blackfan Anemia 3		Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Neutropenia, Severe Congenital, X-Linked		Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Glycine Encephalopathy 1		Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Shukla-Vernon Syndrome		Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Leber Congenital Amaurosis 10		Hyposmia	OMIM:611755
Osteopetrosis, Autosomal Dominant 2		Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency		Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency		Neutropenia	ORPHA:90023
Endosteal Hyperostosis, Autosomal Dominant		Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Osteopetrosis, Autosomal Recessive 6		Osteopetrosis	OMIM:611497
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements		Inability to walk, Self-injurious behavior, Stereotypical hand wringing	OMIM:618760
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome		Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities		Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv...	OMIM:618917
Pontocerebellar Hypoplasia, Type 11		Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi...	OMIM:617695
Hereditary Geniospasm		Abnormal social behavior	ORPHA:53372
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type		Hyperactivity, Bruxism	OMIM:300434
Congenital Dyserythropoietic Anemia Type Iii		Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Bilateral Parasagittal Parieto-Occipital Polymicrogyria		Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Brunet-Wagner Neurodevelopmental Syndrome		Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Developmental Delay, Language Impairment, And Ocular Abnormalities		Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Foxg1 Syndrome		Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Abnormal r...	ORPHA:561854
Trimethylaminuria		Splenomegaly, Anemia, Neutropenia	OMIM:602079
Orotic Aciduria		Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Primary Dystonia, Dyt13 Type		Abnormal repetitive mannerisms	ORPHA:98807
Baker-Gordon Syndrome		Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related		Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2		Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type		Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Neutropenia, Severe Congenital, 6, Autosomal Recessive		Neutropenia	OMIM:616022
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia		Hyposmia	OMIM:615266
Pitt-Hopkins-Like Syndrome 1		Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Intellectual Developmental Disorder With Autism And Dysmorphic Facies		Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors	OMIM:620021
Axial Osteomalacia		Increased bone mineral density, Osteomalacia	OMIM:109130
Neutropenia, Chronic Familial		Neutropenia	OMIM:162700
Cdkl5-Deficiency Disorder		Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, Stereotypical hand wringing	ORPHA:505652
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome		Self-injurious behavior, Stereotypical hand wringing	ORPHA:397933
Osteopetrosis, Autosomal Recessive 9		Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Bone Marrow Failure Syndrome 6		Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Craniodiaphyseal Dysplasia, Autosomal Dominant		Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Erythrocytosis, Familial, 1		Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination		Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Sickle Cell Anemia		Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Intellectual Developmental Disorder, Autosomal Dominant 67		Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia		Hyposmia	OMIM:615271
Intellectual Developmental Disorder, X-Linked 111		Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Kufor-Rakeb Syndrome		Ataxia, Akinesia, Aggressive behavior, Anosmia, Dementia, Gait disturbance, Dysphagia, Hyposmia	OMIM:606693
Intermediate Osteopetrosis		Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies		Recurrent hand flapping	OMIM:618147
Retinitis Pigmentosa And Erythrocytic Microcytosis		Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Gnathodiaphyseal Dysplasia		Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures		Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Rh Deficiency Syndrome		Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Mannosidosis, Beta A, Lysosomal		Hyperactivity, Aggressive behavior	OMIM:248510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein		Neutropenia	OMIM:610798
Lopes-Maciel-Rodan Syndrome		Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis		Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4		Hyperuricemia, Anemia	OMIM:613092
Chronic Myeloid Leukemia		Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Paget Disease Of Bone 3		Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Ghosal Hematodiaphyseal Dysplasia		Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Neutropenia, Severe Congenital, 5, Autosomal Recessive		Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Intellectual Developmental Disorder, Autosomal Dominant 45		Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5		Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Fanconi Anemia, Complementation Group G		Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Hereditary Late-Onset Parkinson Disease		Impulsivity, Akinesia, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance...	ORPHA:411602
Thrombocytopenia 5		B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly		Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Intellectual Developmental Disorder, Autosomal Recessive 71		Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Intellectual Developmental Disorder, Autosomal Recessive 73		Recurrent hand flapping, Impulsivity, Gait ataxia	OMIM:619717
11Q22.2Q22.3 Microdeletion Syndrome		Short attention span, Depressed nasal bridge, Attention deficit hyperactivity disorder, Compulsiv...	ORPHA:444002
8p23.1 deletion syndrome		Hyperactivity	DECIPHER:39
Phenylketonuria		Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature		Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 7		Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ...	OMIM:614104
Hsd10 Disease		Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior	ORPHA:391417
Intellectual Developmental Disorder, X-Linked 101		Hyperactivity	OMIM:300928
Autism Spectrum Disorder Due To Auts2 Deficiency		Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Hb Bart'S Hydrops Fetalis		Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome		Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Developmental And Epileptic Encephalopathy 67		Athetosis, Recurrent hand flapping, Gait disturbance	OMIM:618141
2Q23.1 Microdeletion Syndrome		Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Hypocalcemia, Autosomal Dominant 2		Postnatal growth retardation, Paresthesia	OMIM:615361
Body Mass Index Quantitative Trait Locus 19		Hyposmia, Anosmia, Polyphagia	OMIM:617885
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis		Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities		Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia		Abnormality of the sense of smell	OMIM:146110
Adult Idiopathic Neutropenia		Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive		Reduced natural killer cell count, Neutropenia	OMIM:615214
Arrhinia-Choanal Atresia-Microphthalmia Syndrome		Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Refractory Anemia		Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Early-Onset Autosomal Dominant Alzheimer Disease		Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno...	ORPHA:1020
Primary Familial Polycythemia		Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spinocerebellar Ataxia Type 27		Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia	ORPHA:98764
Acquired Idiopathic Sideroblastic Anemia		Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities		Recurrent hand flapping, Inappropriate laughter	OMIM:618859
Beta-Thalassemia		Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy		Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities		Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:620242
Ras-Associated Autoimmune Leukoproliferative Disorder		Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 21		Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Developmental And Speech Delay Due To Sox5 Deficiency		Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Parkinson Disease 8, Autosomal Dominant		Hyposmia, Dementia	OMIM:607060
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures		Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase		Methemoglobinemia, Polycythemia	OMIM:250800
Juvenile Neuronal Ceroid Lipofuscinosis		Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss of ambulation...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 13		Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Osteopetrosis, Autosomal Recessive 4		Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Bardet-Biedl Syndrome 17		Hyposmia, Polydipsia, Anosmia, Cognitive impairment	OMIM:615994
X-Linked Intellectual Disability, Cantagrel Type		Abnormal repetitive mannerisms	ORPHA:85277
Diamond-Blackfan Anemia 4		Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements		Choreoathetosis, Inability to walk, Stereotypical hand wringing, Bruxism	OMIM:618497
Peroxisome Biogenesis Disorder 9B		Anosmia, Ataxia, Total anosmia	OMIM:614879
Severe Intellectual Disability And Progressive Spastic Paraplegia		Waddling gait, Abnormal repetitive mannerisms, Difficulty walking	ORPHA:280763
Symptomatic Form Of Fragile X Syndrome In Female Carriers		Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe...	ORPHA:449291
Intellectual Developmental Disorder, Autosomal Recessive 41		Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Leukoencephalopathy With Dystonia And Motor Neuropathy		Hyposmia	OMIM:613724
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant		Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Stereotypical hand w...	OMIM:614254
Late Infantile Neuronal Ceroid Lipofuscinosis		Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai...	ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly		Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia		Hyposmia, Anosmia, Bifid nose	OMIM:614838
Xq28 (MECP2) duplication		Gait ataxia, Inability to walk, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Glutamate Formiminotransferase Deficiency		Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency		Ataxia, Confusion, Agitation, Cognitive impairment, Abnormal repetitive mannerisms, Delirium	ORPHA:927
Morm Syndrome		Hyperactivity, Aggressive behavior	ORPHA:75858
Female Restricted Epilepsy With Intellectual Disability		Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 79		Broad-based gait, Tongue thrusting, Gait ataxia	OMIM:620393
Thumb Agenesis, Short Stature, And Immunodeficiency		Anosmia	OMIM:274190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1		Anisocytosis	OMIM:604273
Immunodeficiency 14B, Autosomal Recessive		Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Christianson Syndrome		Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms	ORPHA:85278
Glutathione Synthetase Deficiency		Hemolytic anemia, Neutropenia	OMIM:266130
Anosmia For Isobutyric Acid		Partial anosmia	OMIM:207000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia		Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Chromosome 2Q37 Deletion Syndrome		Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Anosmia For Butyl Mercaptan		Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked		Anosmia	OMIM:301700
Anosmia, Isolated Congenital		Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell		Anosmia	OMIM:243450
Developmental And Epileptic Encephalopathy 6B		Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia	OMIM:619317
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome		Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp...	ORPHA:240094
Lethal Recessive Chondrodysplasia		Generalized osteosclerosis	ORPHA:1423
Agammaglobulinemia 3, Autosomal Recessive		Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Chondrodysplasia Punctata 1, X-Linked Recessive		Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Musk, Inability To Smell		Anosmia	OMIM:254150
Aromatic L-Amino Acid Decarboxylase Deficiency		Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 51		Aggressive behavior, Fixated interests, Tics, Attention deficit hyperactivity disorder, Recurrent...	OMIM:617788
Lamb-Shaffer Syndrome		Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Erythrocytosis, Familial, 2		Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Hereditary Methemoglobinemia		Athetosis, Methemoglobinemia	ORPHA:621
Lesch-Nyhan Phenotype With Normal Hgprt		Choreoathetosis, Hyperuricemia	OMIM:308950
Aural Atresia, Congenital		Hyposmia	OMIM:607842
Atypical Rett Syndrome		Restrictive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Agitation, Inappropriate ...	ORPHA:3095
Ataxia-Pancytopenia Syndrome		Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive		Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Hijazi-Reis Syndrome		Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Schnitzler Syndrome		Arthritis, Increased bone mineral density	ORPHA:37748
Dominant Beta-Thalassemia		Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Chondrodysplasia, Blomstrand Type		Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Apnea, Obstructive Sleep		Anosmia	OMIM:107650
Transcobalamin Deficiency		Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome		Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities		Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability	OMIM:617864
Diamond-Blackfan Anemia 8		Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency 32B		Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities		Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities		Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Usmani-Riazuddin Syndrome, Autosomal Dominant		Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Smith-Magenis Syndrome		Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Otopalatodigital Syndrome Type 1		Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia		Hyposmia, Anosmia	OMIM:612702
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia		Anosmia	OMIM:615270
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type		Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac...	OMIM:300986
Coffin-Siris Syndrome 6		Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia		Hyposmia, Anosmia	OMIM:610628
Dohle Bodies And Leukemia		Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To		Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Immunodeficiency 46		Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Fragile X Syndrome		Hyperactivity, Recurrent hand flapping, Self-biting	OMIM:300624
Galloway-Mowat Syndrome 6		Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia		Anosmia	OMIM:614858
Atypical Juvenile Parkinsonism		Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome		Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Inverted Duplicated Chromosome 15 Syndrome		Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Intellectual Developmental Disorder With Autism And Macrocephaly		Recurrent hand flapping, Pica	OMIM:615032
Purine Nucleoside Phosphorylase Deficiency		Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell m...	ORPHA:760
Glycogen Storage Disease Vii		Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemia, Reticu...	OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 4		Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia		Anosmia	OMIM:615267
Bardet-Biedl Syndrome 19		Hyposmia	OMIM:615996
5Q14.3 Microdeletion Syndrome		Abnormal repetitive mannerisms	ORPHA:228384
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia		Anosmia	OMIM:612370
Tempi Syndrome		Increased hematocrit, Polycythemia	ORPHA:284227
Superficial Siderosis		Ataxia, Partial anosmia, Unsteady gait, Anosmia, Limb ataxia, Dysmetria, Progressive gait ataxia,...	ORPHA:247245
Guanidinoacetate Methyltransferase Deficiency		Self-injurious behavior, Hyperactivity, Aggressive behavior	ORPHA:382
Spinocerebellar Ataxia Type 21		Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Insulin-Like Growth Factor I Deficiency		Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Intrauterine gr...	OMIM:608747
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language		Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin		Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Leukodystrophy, Hypomyelinating, 13		Irritability, Exaggerated startle response, Ataxia	OMIM:616881
Osteopetrosis, Autosomal Recessive 1		Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu...	OMIM:259700
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness		Anemia, Hypochromic microcytic anemia, Akinesia	OMIM:619147
Spinocerebellar Ataxia, Autosomal Recessive 31		Ataxia, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation	OMIM:619422
Stiff Person Spectrum Disorder		Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Intellectual Developmental Disorder, Autosomal Dominant 34		Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Dentici-Novelli Neurodevelopmental Syndrome		Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Pontocerebellar Hypoplasia, Type 15		Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion		Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Angelman Syndrome Due To A Point Mutation		Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Gai...	ORPHA:411511
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills		Recurrent hand flapping, Agitation, Gait disturbance, Bruxism	OMIM:617903
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome		Abnormal repetitive mannerisms	ORPHA:529965
Folate Malabsorption, Hereditary		Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia		Hyposmia, Anosmia	OMIM:244200
Alazami Syndrome		Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Albers-Schönberg Osteopetrosis		Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar...	ORPHA:53
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities		Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Osteogenesis Imperfecta, Type Xiii		Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Syngap1-Related Developmental And Epileptic Encephalopathy		Ataxia, Abnormal eating behavior, Gait disturbance, Recurrent hand flapping, Obsessive-compulsive...	ORPHA:544254
Potocki-Lupski Syndrome		Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Metaphyseal Dysplasia, Braun-Tinschert Type		Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome		Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Snijders Blok-Campeau Syndrome		Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Pontocerebellar Hypoplasia, Type 14		Chronic neutropenia, Thrombocytopenia	OMIM:619301
Diastrophic Dysplasia		Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features		Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Dysosteosclerosis		Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis		Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Hyperostosis Cranialis Interna		Hyposmia, Anosmia	OMIM:144755
Houge-Janssens Syndrome 3		Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome		Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia		Hyposmia, Anosmia, Choanal atresia	OMIM:147950
Fanconi Anemia, Complementation Group V		Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis		Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Pyropoikilocytosis, Hereditary		Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Congenital Disorder Of Glycosylation, Type Iic		Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Spondyloepiphyseal Dysplasia Tarda		Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Combined Immunodeficiency Due To Partial Rag1 Deficiency		Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Histidinemia		Hyperactivity	ORPHA:2157
Osteopetrosis, Autosomal Recessive 2		Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures		Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Gorlin Syndrome		Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome		Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
Agammaglobulinemia 4, Autosomal Recessive		Neutropenia, Abnormal T cell morphology	OMIM:613502
Immunodeficiency 67		Liver abscess, Transient neutropenia	OMIM:607676
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter		Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia	OMIM:617807
Burkitt Lymphoma		Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia	ORPHA:543
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome		Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance	ORPHA:457240
Cri-Du-Chat Syndrome		Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive...	OMIM:123450
Parkinson Disease 17		Akinesia	OMIM:614203
Purine Nucleoside Phosphorylase Deficiency		Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Neutropenia, Severe Congenital, 8, Autosomal Dominant		Neutropenia	OMIM:618752
Intellectual Developmental Disorder, X-Linked 107		Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Diamond-Blackfan Anemia 6		Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Macrocephaly-Developmental Delay Syndrome		Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Spinocerebellar Ataxia, Autosomal Recessive 23		Neutropenia	OMIM:616949
Bilateral Generalized Polymicrogyria		Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Rett Syndrome		Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism...	ORPHA:778
Childhood Absence Epilepsy		Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Craniometaphyseal Dysplasia		Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Transketolase Deficiency		Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Agammaglobulinemia 10, Autosomal Dominant		Transient neutropenia, Absent circulating B cells	OMIM:619707
Developmental And Epileptic Encephalopathy 64		Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Gm2-Gangliosidosis, Ab Variant		Chorea, Dementia, Exaggerated startle response, Dystonia	OMIM:272750
Wolfram Syndrome, Mitochondrial Form		Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Aceruloplasminemia		Refractory anemia, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Hypochromic microcytic anemia	ORPHA:48818
Glycogen Storage Disease Ixb		Splenomegaly, Hyperuricemia	OMIM:261750
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency		Hyperactivity, Aggressive behavior	OMIM:612716
Spastic Tetraplegia And Axial Hypotonia, Progressive		Exaggerated startle response, Ataxia	OMIM:618598
Chromosome 15Q11.2 Deletion Syndrome		Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b...	OMIM:615656
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2		Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Rett Syndrome		Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Stereotypical hand wringing	OMIM:312750
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome		Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
22Q11.2 Duplication Syndrome		Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Maturity-Onset Diabetes Of The Young, Type 14		Elevated hemoglobin A1c	OMIM:616511
Pilarowski-Bjornsson Syndrome		Abnormal repetitive mannerisms	OMIM:617682
Blepharophimosis With Ptosis, Syndactyly, And Short Stature		Anosmia, Wide nasal bridge	OMIM:210745
Spinocerebellar Ataxia 21		Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia	OMIM:607454
Gaucher Disease Type 1		Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac...	ORPHA:77259
Developmental And Epileptic Encephalopathy 87		Recurrent hand flapping	OMIM:618916
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome		Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Short attention span	ORPHA:391372
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome		Pancytopenia, Anemia, Leukopenia, Hyperuricemia, Thrombocytopenia	OMIM:613845
Intellectual Developmental Disorder, X-Linked 98		Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru...	OMIM:300912
Neurodevelopmental, Jaw, Eye, And Digital Syndrome		Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia		Anosmia	OMIM:614880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness		Increased bone mineral density, Osteopetrosis	OMIM:617306
Indifference To Pain, Congenital, Autosomal Recessive		Hyposmia, Anosmia	OMIM:243000
Intellectual Developmental Disorder, X-Linked 21		Hyperactivity, Joint hypermobility, Impulsivity	OMIM:300143
Coffin-Siris Syndrome 7		Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Optic Atrophy 11		Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy		Steppage gait, Anosmia	OMIM:601152
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma		Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Immunodeficiency With Hyper-Igm, Type 3		Neutropenia	OMIM:606843
Refsum Disease, Classic		Anosmia, Ataxia	OMIM:266500
Beta-Thalassemia Intermedia		Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome		Abnormality of the sense of smell	ORPHA:3201
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome		Anosmia	ORPHA:2057
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia		Hyposmia, Anosmia	OMIM:614897
Deafness-Lymphedema-Leukemia Syndrome		Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
48,Xxyy Syndrome		Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:10
Beemer-Ertbruggen Syndrome		Increased bone mineral density	ORPHA:1237
Developmental And Epileptic Encephalopathy 66		Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia		Hyposmia, Anosmia, Ataxia	OMIM:308700
Whim Syndrome 1		Neutropenia	OMIM:193670
Craniometadiaphyseal Dysplasia, Wormian Bone Type		Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Microphthalmia-Brain Atrophy Syndrome		Tongue thrusting	ORPHA:77299
Methemoglobinemia And Ambiguous Genitalia		Methemoglobinemia	OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 48		Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Lactic Acidosis, Chronic Adult Form		Hyperuricemia	OMIM:150170
Solitary Median Maxillary Central Incisor	<

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