Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.0% (0 of 2)
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)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 50% (1 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
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
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 50% (1 of 2)
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)
Vas deferens N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

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
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Negative affectivity, Emotional lability, Obsessive-compulsive trait, Aggressive beha... ORPHA:468726
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300425
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:209850
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schizophrenia 15
Hyperactivity OMIM:613950
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Truncal ataxia... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Hypocalcemic seizures, Decreas... OMIM:146200
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines OMIM:608049
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Irritability, Aggressive behavior, G... ORPHA:275864
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:203330
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... OMIM:275000
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy OMIM:617830
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia OMIM:619073
Myopathy, Tubular Aggregate, 2
Falls, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:94089
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Attention deficit hyperactivity disorder, Increased circul... OMIM:188570
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Inability to walk OMIM:617820
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... OMIM:603233
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Hypocalcemia, Hypergonadotropi... OMIM:606407
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, ... ORPHA:36913
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Irritability ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy, Irritability OMIM:617393
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... OMIM:600795
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level OMIM:618618
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... ORPHA:2239
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:79444
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity OMIM:300434
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Difficulty walking, Hypocalcemia, Irritability, H... OMIM:264700
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Emotional labili... OMIM:614963
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Progressive cereb... ORPHA:248111
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia OMIM:175500
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia OMIM:612526
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Ataxia OMIM:615924
Landau-Kleffner Syndrome
Depression, Gait ataxia, Emotional lability, Aggressive behavior, Attention deficit hyperactivity... ORPHA:98818
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
2P21 Microdeletion Syndrome
Hypogonadism, Hypocalcemia ORPHA:163693
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:79443
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ... OMIM:618917
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... ORPHA:2238
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Hypocalcemia, Hashimoto thyroiditis, Hypothyroidism, Th... ORPHA:64744
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Xq28 (MECP2) duplication
Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... OMIM:271980
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hypercalcemia, Par... OMIM:617994
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Dysphor... OMIM:620242
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Pa... ORPHA:561854
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Inappropriate laughter, Hypocalcemia, Ataxia OMIM:618476
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy ORPHA:168782
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Difficulty walking, Hypocalcemia, Irritability, H... ORPHA:289157
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita... OMIM:241410
Lopes-Maciel-Rodan Syndrome
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation OMIM:617435
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o... ORPHA:228402
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot... OMIM:614104
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Velocardiofacial Syndrome
Hypoparathyroidism, Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors, Un... ORPHA:485350
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, Waddling... OMIM:620445
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased response to growth hormone stimulation test, Motor stereotypy, Hypothy... OMIM:618347
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity OMIM:613192
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereot... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Recurrent hand flapping, Gait ataxia, Emotional lability, Aggressive behavior,... OMIM:619580
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Emotional lability, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Ata... ORPHA:927
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... ORPHA:100924
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hypothyr... OMIM:600430
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hyperparathyroidism, Neonatal Severe
Polydipsia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Calcinosis, Hyperca... OMIM:239200
Blue Diaper Syndrome
Decreased circulating T4 concentration, Hypercalcemia, Hyperphosphatemia, Elevated circulating th... ORPHA:94086
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster... OMIM:618342
Rett Syndrome
Difficulty walking, Bruxism, Inability to walk, Increased serum leptin, Hyperammonemia, Stereotyp... ORPHA:778
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hypercholester... OMIM:182290
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Hypocalcemia, Delayed puberty, Ataxia, Thyroiditis OMIM:212750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia OMIM:600081
Ethylene Glycol Poisoning
Hypocalcemia, Addictive alcohol use, Euphoria, Ataxia, Hyperkalemia ORPHA:31826
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Motor stereotypy, Waddling gait ORPHA:280763
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Developmental And Epileptic Encephalopathy 109
Crouch gait, Gait ataxia, Hyperactivity OMIM:620145
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy ORPHA:85278
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Aggressive behavior, Hyperactivity OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... ORPHA:43
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance, Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Decreased response to growth hormone stimulation test, Self-mutilation, Gait disturba... ORPHA:457240
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypothyroidism, Hyperactivity, Motor stereotypy OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hyperparathyroidism, Gait disturbance, Hypocalcemia ORPHA:93160
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia OMIM:241500
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy ORPHA:98784
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Timothy Syndrome
Hypothyroidism, Hypocalcemia OMIM:601005
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Acute Adrenal Insufficiency
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Hyperuri... ORPHA:95409
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Motor stereotypy, Choreoathetosis, Ataxia OMIM:619317
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia ORPHA:530983
Cystinosis
Type I diabetes mellitus, Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Hypothyroi... ORPHA:213
Kenny-Caffey Syndrome, Type 1
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia OMIM:244460
Gitelman Syndrome
Hypermagnesemia, Type I diabetes mellitus, Polydipsia, Graves disease, Hypomagnesemia, Type II di... ORPHA:358
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity... ORPHA:476126
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hypocalcemia, H... OMIM:620330
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Loss of ambulation, Dysphagia, Motor stereotypy ORPHA:79264
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Depression, Tip-toe gait, Stereotypical body rocking, Aggressive beh... ORPHA:293939
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior, Ga... ORPHA:168491
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy, Ataxia OMIM:619725
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Abnormal eating behav... ORPHA:247585
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... ORPHA:85138
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypocalcemia ORPHA:1563
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... OMIM:617865
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hyperparathyroidism 4
Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism OMIM:617343
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Motor stereotypy, Ataxia OMIM:619092
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... ORPHA:99879
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hypothyroidism, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Motor stereotypy, Precocious puberty OMIM:619877
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
48,Xxyy Syndrome
Depression, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Ataxia, Motor st... ORPHA:10
Adamantinoma
Hypercalcemia ORPHA:55881
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Hypercalcemia OMIM:143880
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinemia, Dysdiadochokinesis, Hyperactivity OMIM:238700
Oculoskeletodental Syndrome
Hypothyroidism, Hypercalcemia, Hypocalcemia OMIM:618440
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Oncogenic Osteomalacia
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:352540
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... OMIM:103580
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Hostility, Inability to walk, Bruxism, Repetitive compulsive behavior, Dysphagia, Ata... OMIM:300260
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Delayed puberty, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy OMIM:613443
Pearson Syndrome
Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyp... ORPHA:699
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemia ORPHA:2323
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr... ORPHA:37042
Optic Atrophy 11
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperactivity, G... OMIM:617302
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tip-toe gait, Hypocalcemia ORPHA:746
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Elevated circulating ribitol concentration, At... ORPHA:488618
Pediatric-Onset Graves Disease
Polydipsia, Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Increased ... ORPHA:525731
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, St... OMIM:300912
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Motor stereotypy ORPHA:411986
Ppoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97278
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa... OMIM:612089
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait OMIM:618205
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Infantile Neuroaxonal Dystrophy
Ataxia, Emotional lability, Gait disturbance, Hyperactivity, Unsteady gait, Choking episodes, Imp... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy OMIM:616351
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Hypoproteinemia, Hypocalcemia OMIM:235255
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Glucagonoma
Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac... ORPHA:97280
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy OMIM:617807
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:99819
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla... ORPHA:1727
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy, Inability to walk OMIM:618004
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic gait OMIM:207800
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:424
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Elevated circulating parathyroid hormone level, Abnormal parathyroid morphology, Hype... ORPHA:99880
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Parathyroid adenoma, Hy... OMIM:145001
Grfoma
Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Increased circulat... ORPHA:97261
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
X-Linked Creatine Transporter Deficiency
Ataxia, Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Athetosis ORPHA:52503
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Antalgic ... ORPHA:635
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Motor stereotypy ORPHA:79155
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... OMIM:123450
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypercalcemia, Adrenal hypoplasia OMIM:614732
Parathyroid Carcinoma
Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parat... ORPHA:143
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Difficulty walking, Inability to walk, Primary adrenal insufficiency, Dysmetri... ORPHA:139396
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Increased serum testosterone level, Hyperactivity, Incr... ORPHA:8
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Motor stereotypy OMIM:618067
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia ORPHA:2668
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... OMIM:619293
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Depression, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Ritscher-Schinzel Syndrome 4
Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Radio-Tartaglia Syndrome
Precocious puberty, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder... OMIM:619312
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Difficulty walking, Irritability, Hypophosphatemi... OMIM:277440
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Attention deficit hyperactivity disorder, Gait distu... ORPHA:819
22Q11.2 Deletion Syndrome
Depression, Hypocalcemia, Hypoplasia of the thymus, Attention deficit hyperactivity disorder, Hyp... ORPHA:567
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia OMIM:239199
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Motor stereotypy, Dysphagia OMIM:617802
Rett Syndrome, Congenital Variant
Bruxism, Irritability, Tongue thrusting, Athetosis, Motor stereotypy OMIM:613454
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma, Paraganglioma of head and neck ORPHA:94080
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis, Impulsi... OMIM:610217
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Decreased response ... OMIM:619503
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance... OMIM:300352
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Diabetes mellitus ORPHA:500159
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia OMIM:619428
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy OMIM:619103
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
Brain-Lung-Thyroid Syndrome
Falls, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism,... ORPHA:209905
Digeorge Syndrome
Parathyroid hypoplasia, Hypocalcemia, Parathyroid agenesis, Attention deficit hyperactivity disor... OMIM:188400
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics... OMIM:616364
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Difficulty walking, Thyroid ... ORPHA:249
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... ORPHA:457279
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... OMIM:619991
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:615656
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia ORPHA:544482
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma OMIM:145980
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism, Motor stereotypy, Ataxia ORPHA:2479
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia ORPHA:435638
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Inability to walk, High nonceruloplasmin-bound serum c... ORPHA:457351
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis ORPHA:261197
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype... ORPHA:466650
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test, Low frustration tolerance, Aggressive beha... ORPHA:319182
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated circulating cal... ORPHA:29072
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism OMIM:145981
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stimulating hormone concent... ORPHA:93325
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy OMIM:615802
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy OMIM:212066
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Phelan-Mcdermid Syndrome
Broad-based gait, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Motor stereotypy OMIM:606232
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcemia, Extraadre... ORPHA:276621
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturbance, Hype... OMIM:234200
Osteopetrosis With Renal Tubular Acidosis
Secondary hyperparathyroidism, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Spastic ataxia, Motor stereotypy, Emotional lability ORPHA:300570
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy ORPHA:468678
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ... OMIM:619575
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy OMIM:300672
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Stereotypical hand wringing, Dysphagia, Ataxia, Motor stereotypy, Agitation OMIM:619229
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Elevated circulating creatine kinase concentration, Motor stereotypy, Dysphagia, Ataxia ORPHA:496641
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia, Ataxia OMIM:607625
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... OMIM:601678
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Depression, Head-banging, Falls, Bruxism, Emotional labilit... ORPHA:2388
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Hyperbilirubinemia, Emotional lability, Ataxia, Tics, Motor stereotypy, Depress... OMIM:619475
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Sk... ORPHA:177907
Bainbridge-Ropers Syndrome
Self-injurious behavior, Precocious puberty, Inability to walk, Recurrent hand flapping, Motor st... OMIM:615485
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Motor stereotypy, Choreoath... ORPHA:522077
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Hypothyroidism, Thyroiditis ORPHA:83471
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia... ORPHA:805
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation ORPHA:261494