Gene: Adgrl3 MGI:2441950

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Gene Summary

adhesion G protein-coupled receptor L3
lectomedin 3,  LEC3,  D130075K09Rik,  5430402I23Rik,  Lphn3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Adgrl3tm1.1(KOMP)Vlcg HOM Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Forepaw

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

6 Images

Human diseases caused by Adgrl3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adgrl3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Laryngeal dystonia, Elevated circula... ORPHA:94090
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Irritability, Babinski sign, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Recessive 37
Spasticity, Aggressive behavior, Hyperactivity OMIM:615493
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Motor tics, Attention deficit hyperactivity disorder, Phoni... OMIM:137580
Smith-Magenis syndrome
Self-mutilation, Stereotypy, Hyperactivity DECIPHER:8
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 58
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Pica, Stereotypy, Choreoathetosis OMIM:617270
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivat... OMIM:172700
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... ORPHA:36899
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Impulsivity, Recurrent hand flapping, Hyperactivity, Stereotypic... ORPHA:100973
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Stereotypy, Hyperprolinemia, Hyperactivity OMIM:239500
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Depression, Pseudohypoparathyroidism, Hypocalcemic tetany, Laryngeal dystonia, Pitu... ORPHA:94089
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Apathy, Amyotrophic lateral sclerosis, Emotional lability, Babinski sig... OMIM:612069
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Rigidity, Frequent falls, Violent behavior, Dysphagia, Gait disturba... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Depression, Chorea, Ataxia, Parkinsonism, Anxiety, Myoclonus, Upper motor neuro... ORPHA:401901
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Autoimmune Hypoparathyroidism
Hypocalcemia, Depression, Hypocalcemic tetany, Laryngeal dystonia, Irritability, Anxiety, Autoimm... ORPHA:36913
Behavioral Variant Of Frontotemporal Dementia
Emotional blunting, Disinhibition, Aggressive behavior, Abnormality of extrapyramidal motor funct... ORPHA:275864
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Myoclonus OMIM:159900
N-Acetylaspartate Deficiency
Self-mutilation, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... ORPHA:66624
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Myoclonus, Hyperactivity OMIM:605899
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Inappropriate laughter, Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordi... OMIM:619150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Disinhibition, Aggressive behavior, Apathy, Gait disturbance, Myoclonus, Stereotypy, Ba... OMIM:600795
Dystonia 12
Dystonia, Depression, Dysphagia, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Pa... OMIM:128235
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hypertonia, Spastic tetraparesis, Hemiparesis, Impulsivity, Hyperactivity OMIM:604317
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Irritability, Stereotypy, Spasticity OMIM:617393
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Dysphagia, Resting tremor, Craniofacial dystonia, Bradykinesia, Emotiona... ORPHA:71517
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Apathy, Bradykinesia, Falls, Anxiety, Parkinsonism, Short stepped shuffling gait, Inappr... ORPHA:412066
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 3
Stereotypy, Increased serum serotonin OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy, Increased serum serotonin OMIM:300495
Autism, Susceptibility To, 8
Stereotypy, Increased serum serotonin OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy, Increased serum serotonin OMIM:300425
Stereotypy, Increased serum serotonin OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy, Increased serum serotonin OMIM:608636
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Chorea, Bradykinesia, Action tremor, Irritability, Anxiety, Rigidity OMIM:606438
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Myoclonus, Attention deficit hyperact... OMIM:619191
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Baker-Gordon Syndrome
Inability to walk, Dystonia, Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy,... OMIM:618218
Immunodeficiency 8
Hyperactivity OMIM:615401
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Tremor, Aggressive behavior, Oculomotor apraxia, Ataxi... OMIM:612716
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy, Attention defi... OMIM:613670
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:619073
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, I... ORPHA:248111
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Anxiety, Stereotypy, Hyperactivity OMIM:609425
Huntington Disease
Dystonia, Clumsiness, Poor fine motor coordination, Rigidity, Aggressive behavior, Apathy, Chorea... ORPHA:399
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Self-injurious behavior, Stereotypical hand wringing OMIM:618760
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... OMIM:615924
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Huntington Disease-Like 1
Incoordination, Aggressive behavior, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria, Rigidity OMIM:603218
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:603233
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Depression, Dysphagia, Chorea, Ataxia, Irritability, Anxiety, Dysm... OMIM:618093
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Polyphagia, Depression, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, H... ORPHA:79444
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Depression, Head tremor, Action tremor, Progressive cerebella... OMIM:604326
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Stereotypy, Hy... OMIM:618718
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Spasticity OMIM:300983
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Inappropriate lau... ORPHA:3095
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Hyperphosphate... ORPHA:2239
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Autosomal Dominant Hypocalcemia
Cortical myoclonus, Hypocalcemia, Depression, Emotional lability, Writer's cramp, Fatigable weakn... ORPHA:428
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Involuntary movements, Choreoathetosis, Polyphagia, Depression, Pseudohypoparathyro... ORPHA:79443
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Dysphagia, Poor coordination, Spasticity, Ata... OMIM:617695
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Chorea, Impulsivity, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Self-injurious behavior, Hyperkinetic movements, Inappropriate crying ORPHA:397933
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Stereotypy, Stereotypi... OMIM:618917
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Brad... OMIM:619279
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Hypocalcemia, Polyphagia, Decreased response to growth hormone st... OMIM:606407
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Anxiety, Attention deficit hyperactivity disorder OMIM:618906
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Myoclonus, Hyperactivity ORPHA:2382
Basal Ganglia Calcification, Idiopathic, 5
Depression, Apathy, Chorea, Parkinsonism, Anxiety, Athetosis, Motor tics OMIM:615483
Dystonia, Disinhibition, Aggressive behavior, Tics, Dysphagia, Self-mutilation of tongue and lips... OMIM:200150
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Disinhibition, Paraparesis, Gait disturbance, He... ORPHA:43
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Speech apraxia, Depression, Slurred speech, Emotional lability,... ORPHA:98818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Polyphagia, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Difficulty walking, Irritability, Elevated circulating parathyroi... ORPHA:289157
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
2P21 Microdeletion Syndrome
Hypocalcemia, Hypogonadism ORPHA:163693
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Depression, Upper limb spasticity, Gait disturbance, Hyperkinetic moveme... ORPHA:457240
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Irritability, Spasticity ORPHA:500545
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Familial Isolated Hypoparathyroidism
Hypocalcemia, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level ORPHA:2238
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Dysphagia, Anxiety, Stereotypy, Progressive spasticity DECIPHER:45
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia, Spastic tetraplegia, Rigidity, Spasticity OMIM:618476
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Foxg1 Syndrome
Inability to walk, Dystonia, Inappropriate crying, Difficulty walking, Hyperkinetic movements, Pa... ORPHA:561854
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Extrapyramidal muscular rigidity, Hypernatremia, Dysphagia, Chorea, Hyponat... ORPHA:94093
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, A... ORPHA:228360
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Inappropriate laughter, Dysphagia, Stereotypy, Conspicuous... ORPHA:85278
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Irritability, Hyperactivity OMIM:275000
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Hypothyroidism, Self-injurious behavior, Irritability, Anxiety, ... ORPHA:449291
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Paragangliomas 3
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord ... OMIM:605373
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Upper limb spasticity, Chorea, Self-... ORPHA:485350
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Anxiety, Stereotypy, Involuntary movements, Suicidal ideation, A... ORPHA:98784
Paragangliomas 1
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochro... OMIM:168000
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Depression, Poor motor coordination, Dysphagia, Loss of ability to walk, Poor fine mo... ORPHA:79264
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Mental Retardation, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Gait disturbance, Ataxia, Stereotypy, Hyperactivity, Ster... OMIM:614104
2Q23.1 Microdeletion Syndrome
Polyphagia, Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy, Hyperacti... ORPHA:228402
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Rhabdoid Tumor
Hemiplegia, Hypercalcemia, Irritability, Cerebral palsy ORPHA:69077
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Stereotypy, Babinski sign, Progressive spastic parap... ORPHA:280763
Perry Syndrome
Dystonia, Tremor, Disinhibition, Rigidity, Akinesia, Depression, Apathy, Bradykinesia, Parkinsoni... OMIM:168605
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemic seizures, Decreased ... OMIM:241410
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Depression, Thyroiditis, Ataxia, Delayed puberty, Type I diabetes mellitus, Anxiety OMIM:212750
Early-Onset Schizophrenia
Low self esteem, Polyphagia, Depression, Abnormal emotion/affect behavior, Impairment in personal... ORPHA:96369
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Precocious puberty, Broad-based gait, Spasticity ORPHA:457260
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Hyperglutaminemia, Ataxia, Emotional lability, Acute hyperammonemia, Hyperalaninemia, A... ORPHA:927
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety, Myoclonus OMIM:616398
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability ORPHA:173
Mental Retardation, Autosomal Recessive 61
Spasticity, Aggressive behavior, Babinski sign, Hyperactivity OMIM:617773
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait, Happy demeanor OMIM:617865
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Self-injurious behavior, Paroxysmal dyskinesia, Oral-pharyngeal dysph... ORPHA:208447
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Poor motor coordination, Abnormal pyramidal sign, Tetrapar... ORPHA:363400
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Toe walking, Babinski sign, Frequent falls, Hypoparathyroidism ORPHA:746
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Dysphagia, Ataxia, Abnormal eating behavior, Happy demeanor, Tong... ORPHA:98794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... ORPHA:85327
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Spasticity, Decreased response to growth hormone stimuation test, Aggressive behavior, Hyperactivity OMIM:615286
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Timothy Syndrome
Hypocalcemia, Hypothyroidism OMIM:601005
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Hypertonia, Chorea, Intention tremor, Brady... OMIM:610217
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Gait disturbance, Hyperparathyroidism ORPHA:93160
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hypertonia, Lethargy, Hyperactivity OMIM:274270
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Dysphagia, Ataxia, Abnormal eating behavior, Tongue thrusting, Recurrent ... ORPHA:411511
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnorm... OMIM:614963
Non-Functioning Paraganglioma
Tremor, Panic attack, Paraganglioma, Vocal cord paralysis, Hypercalcemia, Paraganglioma of head a... ORPHA:94080
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Anxiety, Stereotypy, Attention deficit hyperactivit... ORPHA:313892
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Rett Syndrome
Inability to walk, Limb apraxia, Dystonia, Difficulty walking, Increased serum pyruvate, Gait dis... ORPHA:778
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Parathyroid adenoma, Hypercalcemia, Primary hyperparathyroidism, Elevated circu... ORPHA:99879
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Cortical myoclonus, Aggressive behavior, Gait disturbance, Ataxia, Low frustra... ORPHA:168491
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypothyroidism, Decreased serum iron, Anxiety, Repetitive compulsive behavior, ... ORPHA:391372
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Self-injurious behavior, Oral-pharyngeal dysphagia, Oculogyri... ORPHA:178469
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Stereotypy OMIM:613886
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Stereotypical body rocking, Hypothyroidism, Neonatal hyperbiliru... ORPHA:293939
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Stereotypy, Hyperactivity ORPHA:391307
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Head-banging, Hypertriglyceridemia, Abnormality of the thy... OMIM:182290
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Ethylene Glycol Poisoning
Hypocalcemia, Slurred speech, Ataxia, Euphoria, Myoclonus, Hyperkalemia ORPHA:31826
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Self-biting, Stereotypy, Hyperactivity, Hypogonadism, Precocious puberty ORPHA:3306
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Spastic tetraplegia, Clonus OMIM:259720
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Oculogyric crisis, Torticollis, Irritab... OMIM:608643
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Hoffmann sign, Apraxia, Difficulty walking, Primary adrenal... ORPHA:139396
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Spasticity, Unsteady gait, Stereotypy, Happy demeanor OMIM:617807
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Stiff Person Spectrum Disorder
Difficulty walking, Hypothyroidism, Agoraphobia, Emotional lability, Exaggerated startle response... ORPHA:3198
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cdkl5-Deficiency Disorder
Difficulty walking, Gait disturbance, Inappropriate laughter, Stereotypical hand wringing ORPHA:505652
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circulating parathyro... ORPHA:280651
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Maturity-onset diabetes of the young, Tremor, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
48,Xxyy Syndrome
Tremor, Depression, Hypergonadotropic hypogonadism, Ataxia, Anxiety, Type II diabetes mellitus, S... ORPHA:10
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesis, Atax... ORPHA:35069
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism OMIM:244460
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormal eating behavior, Recurrent hand fla... ORPHA:544254
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Abnormal circulating creatine concentration, Hypertonia, Chorea, Ataxi... ORPHA:52503
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle ... ORPHA:309246
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Gait ataxia, Aggressive behavior, Hypercalcemia, Stereotypy, Attention d... ORPHA:476126
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypoparathyroidism, Hypothyroidism ORPHA:1563
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Stereotypy ORPHA:168782
Coffin-Siris Syndrome 6
Tics, Stereotypy, Anxiety, Attention deficit hyperactivity disorder OMIM:617808
Childhood Absence Epilepsy
Low self esteem, Depression, Punding, Anxiety, Limb myoclonus, Attention deficit hyperactivity di... ORPHA:64280
Rasmussen Subacute Encephalitis
Inability to walk, Involuntary movements, Hemiparesis, Emotional lability, Irritability, Hemidyst... ORPHA:1929
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Alazami Syndrome
Self-mutilation, Abnormal eating behavior, Anxiety, Stereotypy, Stereotypical hand wringing ORPHA:319671
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypophosphatemia, Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Abnormal pyra... ORPHA:213
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Gait disturbance ORPHA:352540
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Aggressive behavior, Acute hyperammonemi... ORPHA:247585
Shukla-Vernon Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hyperkinetic movements, Hypocalcemic tetany, Hyperaldosteronism, Hypomagnesemia, My... ORPHA:73224
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci... ORPHA:26793
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Decreased response to growth hormone stimuation test, Adrenal hypoplasia OMIM:614732
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:612462
Hypercalcemia, Irritability ORPHA:436
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Precocious puberty, Broad-based gait, Spasticity OMIM:300958
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Maternal diabetes, Graves disease, Primary hyperaldosteronism, Par... ORPHA:358
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Increased ... ORPHA:525731
Adenylosuccinase Deficiency
Inability to walk, Self-mutilation, Gait ataxia, Inappropriate laughter, Aggressive behavior, Spa... OMIM:103050
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic paroxysmal anxiety, Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pan... ORPHA:276621
Snijders Blok-Campeau Syndrome
Speech apraxia, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Aggressive behavior, Hyperactivity ORPHA:369939
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Parathyroid hyperplasia, Hypophosphatemic rickets, Hypercalcemia, Elevated circ... OMIM:612089
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Polyphagia, Delayed menar... ORPHA:72
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circulating parathyroid h... OMIM:103580
Sanjad-Sakati Syndrome
Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia ORPHA:2323
Intellectual Developmental Disorder, X-Linked 98
Stereotypy, Spasticity, Ataxia, Hyperactivity OMIM:300912
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Hypothyroidism OMIM:618440
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Disinhibition, Polyphagia, Hypersexuality, Apathy, Parkinsonism, Repetitive compulsive b... OMIM:607485
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Facial paralysis OMIM:259700
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Aggressive behavior, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Ba... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Depression, Dysphagia, Chorea, Hostility, Ataxia, Lower limb spasticity, Anxie... OMIM:300260
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Elevated circulating creatinine con... ORPHA:411634
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Delayed puberty, Hyperactivity, Hypogonadism, Mood swings OMIM:300354
Hereditary Pheochromocytoma-Paraganglioma
Episodic paroxysmal anxiety, Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pan... ORPHA:29072
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Hypertonia, Anxiety, Stereotypy, Hypera... OMIM:123450
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hypothyroidism, Dysphagia, Ataxia, Adrenal insufficiency, Hypokal... ORPHA:699
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Hypertonia, Ataxia, Hyperactivit... OMIM:601853
Transketolase Deficiency
Self-injurious behavior, Elevated circulating ribitol concentration, Type I diabetes mellitus, St... ORPHA:488618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:617994
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Thyroid lymphangiectasia OMIM:235255
Double Outlet Right Ventricle
Hypocalcemia, Hypoparathyroidism, Aplasia/Hypoplasia of the thymus ORPHA:3426
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Potocki-Lupski Syndrome
Hypothyroidism, Oral-pharyngeal dysphagia, Hypocholesterolemia, Stereotypy, Hyperactivity OMIM:610883
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Neonatal hyperbilirubinemia, Ba... OMIM:609727
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Difficulty walking, Irritability, Elevated circulating parathyroid hormone leve... OMIM:264700
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Late-Onset Isolated Acth Deficiency
Lethargy, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating ACTH level, ... ORPHA:199299
Velocardiofacial Syndrome
Hypocalcemia, Hypoparathyroidism, Aggressive behavior, Mood swings OMIM:192430
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperac... ORPHA:1942
Autism, Susceptibility To, 3
Stereotypy, Increased serum serotonin OMIM:608049
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Thyroiditis, Hypothyroidism, Abnormal blood ion concent... ORPHA:37042
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Aggressive behavior, Gait disturbance, Stereotypy, Poor hand-eye coordination, Attentio... OMIM:300352
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Difficulty walking, Irritability, Elevated circulating parathyroid hormone leve... OMIM:277440
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Radio-Tartaglia Syndrome
Tremor, Aggressive behavior, Gait imbalance, Dysphagia, Ataxia, Impulsivity, Stereotypy, Precocio... OMIM:619312
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating pa... OMIM:239200
22Q11.2 Duplication Syndrome
Stereotypy, Aplasia/Hypoplasia of the thymus, Anxiety, Attention deficit hyperactivity disorder ORPHA:1727
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Lamb-Shaffer Syndrome
Stereotypy, Upper motor neuron dysfunction, Ataxia, Hyperactivity ORPHA:530983
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Hair-pulling, Hypertonia, Head titubation, Emotional lability, Head-banging, Progressive inabilit... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Choreoathetosis, Eyelid apraxia, Motor tics, Akinesia, Abnormality of extrapyramidal mo... OMIM:234200
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Clumsiness, Elevated circulating thyroid-stimulating hormon... ORPHA:209905
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia, Hypertonia, Lower limb spasticity, Irritability, Stereotypy, Hyperactivi... ORPHA:447997
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Hypercalcemia, Parathyroid adenoma, Hyperpar... OMIM:145001
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Aggressive behavior, Hyperactivity OMIM:616809
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Inappropriate crying, Chorea, Irritability, Tongue thrusting, Stereotypy, Athe... OMIM:613454
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Hyperparathyroidism ORPHA:2668
Digeorge Syndrome
Hypocalcemia, Bipolar affective disorder, Decreased circulating parathyroid hormone level, Hypoth... OMIM:188400
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
4Q21 Microdeletion Syndrome
Self-injurious behavior, Tremor, Stereotypy ORPHA:238750
Hypophosphatasia, Infantile
Hypercalcemia, Elevated plasma pyrophosphate, Irritability OMIM:241500
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Hypoparathyroidism, Adrenal calcification, Primary ad... ORPHA:85138
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Gait disturbance, Self-injurious behavior, Hypertriglycerid... ORPHA:819
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Dysphagia, ... ORPHA:166108
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Polyphagia, Delayed puberty, Hypercalcemia, Myoclonus ORPHA:251004
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Depression, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hyperparathyroidism OMIM:239199
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Dysphagia, Hypercalcemia, Primary hyperparathyroidism,... ORPHA:99878
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Stereotypy ORPHA:411986
Frequent falls, Spastic paraparesis, Progressive spastic quadriplegia, Hyperargininemia, Spastic ... OMIM:207800
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Self-injurious behavior, Hypertonia, Impulsivity, Stereotypy, Cerebral palsy OMIM:618914
Leber Congenital Amaurosis 1
Hyperthreoninemia, Eye poking OMIM:204000
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
22Q11.2 Deletion Syndrome
Hypocalcemia, Bipolar affective disorder, Depression, Hypothyroidism, Hypoplasia of the thymus, A... ORPHA:567
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Poor coordination, Ataxia, Anxiety, Hyperactivity, Spasticity OMIM:618430
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Niemann-Pick Disease, Type C2
Dystonia, Dysphagia, Ataxia, Cataplexy, Stereotypy, Abnormal circulating cholesterol concentratio... OMIM:607625
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypouricemia, Hypertonia, Ataxia, Hyperacti... ORPHA:760
Blepharophimosis-Impaired Intellectual Development Syndrome
Stereotypy, Low frustration tolerance, Attention deficit hyperactivity disorder OMIM:619293
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Tongue thrusting, Spasticity ORPHA:77299
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Parathyroid hypoplasia, Diabetes mellitus, Hypoparathyroidism, Hypocalcemic seizures ORPHA:2237
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Pyruvate Carboxylase Deficiency
Dystonia, Tremor, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in ... ORPHA:3008
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait, Hypoparathyroidism OMIM:156400
Fibrous Dysplasia Of Bone
Hypophosphatemia, Elevated circulating growth hormone concentration, Increased circulating cortis... ORPHA:249
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimuation test, Stereotypy, Hyperactivity OMIM:615873
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Limb hypertonia, Limb dystonia, High nonceruloplasmin... ORPHA:457351
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Parathyroid adenoma, Dysphagia, Abnormality of the parathyroid morphology, Hype... ORPHA:99880
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Tics, Lower limb spasticity, Low frustration tolerance, ... ORPHA:363686
Wiedemann-Steiner Syndrome
Aggressive behavior, Dysphagia, Low frustration tolerance, Anxiety, Stereotypy, Hyperactivity, De... ORPHA:319182
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Stereotypy OMIM:618825
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder, Decr... ORPHA:485405
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Self-biting, St... ORPHA:522077
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Dysphagia, Abnormality of the parathyroid morphology, Hy... ORPHA:143
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Dysphagia, Spastic tetraparesis, S... ORPHA:2203
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Emotional labi... ORPHA:300570
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Pheochromocytoma, Thyroid C cell hyperplasia, Thyroid nodule, Hypercalce... ORPHA:653
Infantile Myofibromatosis
Hemiplegia/hemiparesis, Hypercalcemia ORPHA:2591
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Stereotypy, Attention deficit hyperactivity disorder OMIM:619103
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Tetraplegia, Dystonia, Dysphagia, Ataxia, Stereotypy, Fasciculations, Elevated circulating creati... ORPHA:496641
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hemiparesis, Diabetes mellitus, Hyperkalemia ORPHA:544482
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hypermagnesemia, Hypercalcemia, Hyperparathyroidism OMIM:145980
47,Xyy Syndrome
Increased circulating gonadotropin level, Impulsivity, Hyperactivity, Attention deficit hyperacti... ORPHA:8
Familial Parathyroid Adenoma
Hypophosphatemia, Parathyroid carcinoma, Parathyroid hyperplasia, Hypercalcemia, Primary hyperpar... ORPHA:99877
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Dysphagia, Gait imbalance, Broad-based gait ORPHA:98795
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreoathetosis, Attention deficit h... ORPHA:261197
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Mental Retardation, Autosomal Dominant 34
Stereotypy, Broad-based gait OMIM:616351
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Aggressive behavior, Ataxia, Unsteady gait, Low frustration tolerance, Stereotypy ORPHA:457279
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Mend Syndrome
Hypertonia, Hyperactivity OMIM:300960
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Precocious puberty, Hyperactivity ORPHA:447980
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Paroxysmal bursts of laughter, Hyperactivity, B... OMIM:105830
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Aggressive behavior, Hypertonia, Unsteady gait, Stereotypy OMIM:212066
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity ORPHA:401777
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Upper limb spasticity, Dysphagia, Ataxia, Lower limb spasticity, Myocl... OMIM:619229
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hypothyroidism, Gait disturban... ORPHA:363528
Glass Syndrome
Happy demeanor, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:612313
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Hypocalcemic tetany, Congenital ... ORPHA:93325
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Aggressive behavior, Ataxia, Hyperactivity ORPHA:369891
Dilated Cardiomyopathy With Ataxia
Dystonia, Elevated circulating glutaric acid concentration, Hypothyroidism, Ataxia, Action tremor... ORPHA:66634
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor ORPHA:667
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Aggressive behavior, Hyperactivity OMIM:309520
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Hypertonia, Myoclonus ORPHA:289266
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
7Q11.23 Microduplication Syndrome
Aggressive behavior, Polyphagia, Self-injurious behavior, Unsteady gait, Anxiety, Dysmetria, Hype... ORPHA:96121
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Phelan-Mcdermid Syndrome
Aggressive behavior, Unsteady gait, Tongue thrusting, Stereotypy, Broad-based gait OMIM:606232
3P25.3 Microdeletion Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Ataxia ORPHA:435638
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330