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Gene: Slc6a3 MGI:94862

Gene Summary

Name:

solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

Synonyms:

Dat1, DAT

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating free fatty acids level	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	5.19×10^-07
abnormal tooth morphology	Slc6a3^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.38×10^-06
increased circulating sodium level	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	1.12×10^-10
absent teeth	Slc6a3^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.63×10^-07
hyperactivity	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	4.95×10^-09
increased heart weight	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	4.64×10^-10

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)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 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	0.0% (0 of 2)
Mammary gland	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	50% (1 of 2)
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
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
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Submandibular gland	N/A	heterozygote	50% (1 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thalamus	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)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

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%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
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%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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 Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Section

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Forepaw

10 Images

View images

Combined SHIRPA and Dysmorphology

Images

2 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Electroretinography 2

Rod and cone PDF

2 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

View images

Human diseases caused by Slc6a3 mutations

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

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

Human diseases associated with Slc6a3 (2 diseases)
Human diseases predicted to be associated with Slc6a3 (898 diseases)

The table below shows human diseases associated to Slc6a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Infantile Dystonia-Parkinsonism		Chorea, Irritability, Bradykinesia	ORPHA:238455
Parkinsonism-Dystonia 1, Infantile-Onset		Bradykinesia	OMIM:613135

The table below shows human diseases predicted to be associated to Slc6a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ...	OMIM:615925
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Autism, Susceptibility To, X-Linked 4	Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity	OMIM:300830
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Isolated Growth Hormone Deficiency, Type Iv	Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu...	OMIM:618157
Gilles De La Tourette Syndrome	Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto...	OMIM:137580
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:618830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Isolated Growth Hormone Deficiency, Type Ii	Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ...	OMIM:173100
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
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
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Pituitary Hormone Deficiency, Combined, 3	Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc...	OMIM:221750
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Isolated Growth Hormone Deficiency, Type Ib	Decreased response to growth hormone stimulation test, Acromicria, Short stature, Reduced circula...	OMIM:612781
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Autism	Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines	OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Taurodontism	Taurodontia	OMIM:272700
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short statur...	OMIM:618160
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Pituitary Dwarfism With Large Sella Turcica	Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw...	OMIM:262710
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
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
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Memory impairm...	ORPHA:251623
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ...	OMIM:300123
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr...	ORPHA:71526
Panhypopituitarism, X-Linked	Panhypopituitarism, Pituitary dwarfism	OMIM:312000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Delayed pube...	OMIM:612079
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
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Truncal ataxia...	OMIM:608636
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Emotional lability, Agitation	OMIM:617171
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Mehmo Syndrome	Male hypogonadism, Decreased response to growth hormone stimulation test, Difficulty walking, Ina...	OMIM:300148
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi...	ORPHA:3363
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi...	ORPHA:100083
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	OMIM:616784
Pick Disease Of Brain	Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion...	OMIM:172700
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Endocardial Fibroelastosis	Cognitive impairment, Sandal gap, Anterior hypopituitarism, Cryptorchidism	ORPHA:2022
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Emotion...	OMIM:614963
Bonnemann-Meinecke-Reich Syndrome	Decreased response to growth hormone stimulation test, Short stature	ORPHA:1261
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism	OMIM:612702
Cog2-Cdg	Small pituitary gland, Psychomotor deterioration	ORPHA:435934
Rhyns Syndrome	Hypoplastic ilia, Hypopituitarism, Small epiphyses, Abnormal acetabulum morphology, Abnormal long...	ORPHA:140976
Septooptic Dysplasia	Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio...	OMIM:182230
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines	OMIM:300495
Kearns-Sayre Syndrome	Anterior hypopituitarism, Ataxia	ORPHA:480
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth	OMIM:619787
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Non-Acquired Isolated Growth Hormone Deficiency	Genu valgum, Delayed puberty, Abdominal obesity, Short stature, Growth delay, Anterior hypopituit...	ORPHA:631
Temple Syndrome	Precocious puberty, Small hand, Decreased response to growth hormone stimulation test, Postnatal ...	ORPHA:254516
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia	ORPHA:1264
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
N-Acetylaspartate Deficiency	Broad-based gait, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, Motor ste...	OMIM:614063
4H Leukodystrophy	Mental deterioration, Decreased response to growth hormone stimulation test, Abnormality of thyro...	ORPHA:289494
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul...	OMIM:613038
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cryptorchidism	OMIM:614880
Oliver-Mcfarlane Syndrome	Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo...	OMIM:275400
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Ethanolaminosis	Cardiomegaly	OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Galloway-Mowat Syndrome 6	Growth delay, Decreased response to growth hormone stimulation test, Intrauterine growth retardat...	OMIM:618347
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser...	ORPHA:67045
Septopreoptic Holoprosencephaly	Precocious puberty, Short attention span, Central diabetes insipidus, Dysphagia, Anterior hypopit...	ORPHA:280195
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy	OMIM:606053
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Failure to thrive, Decreased response to growth hormone stimulation test, Aggressive behavior, Hy...	OMIM:615286
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Triple A Syndrome	Short stature, Adrenal insufficiency, Anterior hypopituitarism, Ataxia	ORPHA:869
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Ane Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:157954
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Proximal p...	ORPHA:502430
Ziegler-Huang Syndrome	Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim...	OMIM:620501
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Cryptorchidism, Cognitive impairment, Brachydactyly, Short stature, Ante...	ORPHA:2863
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test, Short stature, Waddling gait	OMIM:616224
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret...	OMIM:616113
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy...	OMIM:615849
Hypertriglyceridemia 1	Hypopituitarism	OMIM:145750
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio...	ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy	OMIM:612069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Decreased response to growth hormone stimulation test, Decreased testicular size, Sel...	ORPHA:457240
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ...	ORPHA:95619
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia	OMIM:304800
Spinocerebellar Ataxia Type 27	Memory impairment, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, G...	ORPHA:98764
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, Hy...	OMIM:300942
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia	OMIM:620152
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ...	OMIM:609734
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho...	OMIM:620651
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism	ORPHA:181
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect	DECIPHER:39
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po...	ORPHA:453533
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Short stature, Brachydactyl...	OMIM:602152
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Boomerang Dysplasia	Finger syndactyly, Decreased response to growth hormone stimulation test, Abnormal tibia morpholo...	ORPHA:1263
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Growth delay, Increased circulating prolactin concentration, Decreased circulating T4...	ORPHA:99832
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I...	ORPHA:2410
Epidermolysis Bullosa, Junctional 1A, Intermediate	Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	OMIM:226650
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Failure to thrive, Severe short stature	OMIM:245590
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Williams-Beuren Region Duplication Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Attenti...	OMIM:609757
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo...	OMIM:608747
Hyperprolactinemia	Increased circulating prolactin concentration	OMIM:615555
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi...	ORPHA:226307
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypopituitarism, Dec...	ORPHA:90695
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H...	ORPHA:3008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
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
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Failure to thrive, Bilateral cryptorchidism, Decrease...	ORPHA:485405
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, ...	OMIM:600795
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Decreased response to growth hormone stimulation test, Postnatal growth ret...	OMIM:614732
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:619150
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test, Abnormal toe morphology, Aplasia/Hypoplasi...	OMIM:216100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Arachnodactyly, Hypothyroidism, Short stature	OMIM:619013
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre...	ORPHA:1501
Nephrogenic Diabetes Insipidus	Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Partial atrioventricular canal defect, Impulsivity, Hyperactivity...	OMIM:620423
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
X-Linked Intellectual Disability, Van Esch Type	Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu...	ORPHA:163976
Joubert Syndrome 38	Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat...	OMIM:619476
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Pallister-Hall-Like Syndrome	Postaxial foot polydactyly, Toe syndactyly, Anterior hypopituitarism, Hypothalamic hamartoma, Pos...	OMIM:241800
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Depression, Decreased response to growth hormone stimulation test, Hyper...	OMIM:601853
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:615751
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556037
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Increased serum serotonin, Inflexible adherence to routines	OMIM:608049
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity	OMIM:619470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis	OMIM:615508
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Giant Axonal Neuropathy	Falls, Difficulty walking, Genu valgum, Distal sensory impairment, Unsteady gait, Abnormal pituit...	ORPHA:643
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype...	ORPHA:91351
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Anorexia	ORPHA:178029
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Panhypopituitarism, Decreased testicular size, Intrauterine growth retardation,...	OMIM:300953
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t...	OMIM:300888
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy	OMIM:617830
Spinocerebellar Ataxia 21	Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme...	OMIM:607454
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Decreased respo...	OMIM:610978
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Depression, Abnormal epiphysis morp...	ORPHA:90674
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:98793
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop...	ORPHA:95494
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:98754
Myopathy, Mitochondrial, And Ataxia	Depression, Increased circulating prolactin concentration, Difficulty walking, Inability to walk,...	OMIM:617675
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556030
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid hormone lev...	ORPHA:94089
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:177904
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small hand, Bulimia, Decreased circulating T4 concentration, Central adrena...	ORPHA:177901
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Paresthesia, Adrenocorticotropic h...	ORPHA:251937
Immunodeficiency 54	Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar...	OMIM:609981
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Small hand, Decreased response to growth hormone ...	OMIM:300845
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Manganese Poisoning	Memory impairment, Confusion, Inappropriate laughter, Akinesia, Aggressive behavior, Gait disturb...	ORPHA:306682
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Motor stereotypy, Irritability	OMIM:617393
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Hypohidrosis, Growth delay, Failure to thrive	ORPHA:98813
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard...	OMIM:606407
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes...	ORPHA:94065
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Genu valgum, Short stature, Hip dislocation	ORPHA:436174
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy, Inability to walk	OMIM:617820
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Intrauterine growth ret...	ORPHA:363528
Pseudohypoparathyroidism Type 1C	Polyphagia, Short metacarpal, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal...	ORPHA:79444
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:177735
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypopituitarism, Delayed puberty, Failure to thrive, Growth delay	OMIM:600462
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Hypopituitarism, Addictive alcohol use, Hypothyroidism, Cognitive impairment, ...	ORPHA:90065
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Intrauterine gr...	OMIM:180860
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:609425
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism	OMIM:264350
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Hip dysplasia, ...	OMIM:601427
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop...	OMIM:615926
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ...	ORPHA:174
Glycine Encephalopathy 1	Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Avascular...	ORPHA:93308
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Xq21 Microdeletion Syndrome	Dysdiadochokinesis, Decreased response to growth hormone stimulation test, Postnatal growth retar...	ORPHA:1435
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Hypothyroidism, Ataxia	ORPHA:324737
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Aromatic L-Amino Acid Decarboxylase Deficiency	Failure to thrive, Increased circulating prolactin concentration, Irritability, Hyperhidrosis, Sh...	ORPHA:35708
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Snakebite Envenomation	Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Sel...	OMIM:618922
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Abnormal de...	ORPHA:69087
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors	OMIM:301107
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb	OMIM:618624
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ...	OMIM:618718
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo...	ORPHA:1897
Acrootoocular Syndrome	Small for gestational age, Short toe, Sandal gap, Short finger, Decreased response to growth horm...	ORPHA:2980
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Fanconi Anemia, Complementation Group W	Absent thumb, Decreased response to growth hormone stimulation test, Intrauterine growth retardat...	OMIM:617784
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia	ORPHA:98773
Pseudohypoparathyroidism Type 1A	Polyphagia, Short metacarpal, Choreoathetosis, Broad distal phalanx of the thumb, Depression, Sho...	ORPHA:79443
Morm Syndrome	Aggressive behavior, Hyperactivity	ORPHA:75858
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Pi...	ORPHA:199299
Kallmann Syndrome	Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased testicular s...	ORPHA:478
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume...	ORPHA:1787
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi...	ORPHA:3077
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo...	OMIM:101800
Zimmermann-Laband Syndrome	Bifid uvula, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, High palate...	ORPHA:3473
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Dominant Beta-Thalassemia	Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ...	ORPHA:231226
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att...	ORPHA:449291
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber...	ORPHA:398069
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona...	ORPHA:398079
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to concentrate,...	OMIM:615516
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins...	ORPHA:2965
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas...	ORPHA:2232
Sheehan Syndrome	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:91355
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Genu valgum, Ch...	OMIM:216550
Foxg1 Syndrome	Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Co...	ORPHA:561854
Fg Syndrome Type 1	Small pituitary gland, Attention deficit hyperactivity disorder, Short stature, Cryptorchidism	ORPHA:93932
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At...	OMIM:617695
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag...	ORPHA:293987
Meningioma	Increased circulating prolactin concentration, Difficulty walking, Emotional lability, Neoplasm o...	ORPHA:2495
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:615541
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Severe short stature, Clinodactyly, Bilateral cryptorchidism, Decreased response to growth hormon...	OMIM:618336
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion...	ORPHA:502
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Failure to thrive, Decreased response to growth hormone stimulation tes...	ORPHA:319182
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Depression, Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficult...	ORPHA:502423
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponatremia, Restl...	ORPHA:100924
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty...	ORPHA:280679
Perry Syndrome	Short stepped shuffling gait, Inappropriate behavior, Akinesia, Disinhibition, Frontotemporal dem...	OMIM:168605
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo...	ORPHA:1452
Neurodegeneration With Brain Iron Accumulation 5	Dementia, Aggressive behavior, Akinesia, Mental deterioration	OMIM:300894
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level	ORPHA:199296
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth	OMIM:190351
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Prader-Willi Syndrome	Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidis...	OMIM:176270
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Beta-Thalassemia Major	Growth delay, Hypopituitarism, Failure to thrive in infancy, Adrenal insufficiency, Genu valgum, ...	ORPHA:231214
Hydranencephaly	Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Intrauterine ...	ORPHA:2177
Landau-Kleffner Syndrome	Memory impairment, Short attention span, Gait ataxia, Aggressive behavior, Attention deficit hype...	ORPHA:98818
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Shukla-Vernon Syndrome	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy...	OMIM:301029
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Decreased response to growth hormone stimulation test, Postnatal growth retardation, ...	OMIM:241410
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Lennox-Gastaut Syndrome	Aggressive behavior, Falls, Hyperactivity, Mental deterioration	ORPHA:2382
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:620242
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615842
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent...	OMIM:615841
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume...	ORPHA:77258
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:618218
Deeah Syndrome	Impaired pain sensation, Decreased response to growth hormone stimulation test, Panhypopituitaris...	OMIM:619004
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Short stature, Diabetes insipid...	ORPHA:3157
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Decreased response to growth hormone stimulation...	OMIM:609053
Classic Progressive Supranuclear Palsy Syndrome	Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa...	ORPHA:240071
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp...	ORPHA:66624
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Diastema, Microdontia	OMIM:619718
Isolated Cleft Lip	Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral...	ORPHA:199302
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Inability to walk, Gait ataxia, Stereotypical hand wringing, Compulsive ...	OMIM:618917
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Delayed epiphyseal ossification, Congenital hip dislocation, Growth delay, Fl...	OMIM:616007
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	High palate, Supernumerary tooth, Persistence of primary teeth	OMIM:619752
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva...	OMIM:301077
Xq28 (MECP2) duplication	Depression, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy	DECIPHER:45
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Short stature, Anterior hypopituitarism	OMIM:147250
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri...	ORPHA:79264
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Precocious puberty, Premature adrenarche, Clinodactyly, Failure to thrive, Decreased response to ...	ORPHA:96182
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Difficulty walking, Abnormal tibia morphology, Ovarian cyst...	ORPHA:249
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale	OMIM:617182
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ...	ORPHA:171876
Corticobasal Syndrome	Dementia, Akinesia, Memory impairment, Gait disturbance	ORPHA:454887
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Anterior pituitary hypoplasia, Short foot, Motor stere...	ORPHA:177907
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity	OMIM:618090
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Cryptorchidism, Hip dislocation, Syndactyly, Precocio...	OMIM:146510
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Alobar Holoprosencephaly	Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth...	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Central hypothyroidism, Failure to thrive, Growth delay, Decreased response to growth...	ORPHA:220386
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat...	ORPHA:91347
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Decreased response to growth hormone stimulation test, Long hallux, Bilateral cam...	OMIM:619234
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Adrenal h...	OMIM:220210
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Recurrent hand flapping, Emotional lability, Gait ataxia, Short attention span...	OMIM:619580
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Brachydactyly, Diabetes insipidus	ORPHA:391474
Orofacial Cleft 15	Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate	OMIM:616788
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ...	OMIM:252100
Shwachman-Diamond Syndrome	Metaphyseal irregularity, Growth delay, Pancreatic hypoplasia, Proximal femoral epiphysiolysis, F...	ORPHA:811
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Dysphagia, Dysdiadoch...	ORPHA:247234
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis	ORPHA:3353
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Autism Spectrum Disorder Due To Auts2 Deficiency	Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi...	ORPHA:352490
Isolated Biliary Atresia	Small for gestational age, Failure to thrive, Hypopituitarism, Atretic gallbladder, Severe failur...	ORPHA:30391
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability	ORPHA:391307
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Decreased response to growth hormone stimulation test, Bilateral crypt...	ORPHA:96179
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Juvenile Huntington Disease	Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia	ORPHA:248111
Prolactin Deficiency, Isolated	Reduced circulating prolactin concentration	OMIM:264110
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Difficulty walking, Genu valgum, Disproportionate short-trunk short stature...	ORPHA:239
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Short stature, Hyperhidrosis	OMIM:615280
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620292
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin...	ORPHA:43
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp...	OMIM:618342
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent...	ORPHA:364577
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia	ORPHA:1930
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A...	ORPHA:168491
Kufor-Rakeb Syndrome	Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Dementia, Dysphagia	OMIM:606693
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia	ORPHA:391411
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia	OMIM:226700
Chromosome 18Q Deletion Syndrome	Broad-based gait, Toe syndactyly, Decreased response to growth hormone stimulation test, Failure ...	OMIM:601808
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect	OMIM:608688
Laron Syndrome	Severe short stature, Delayed menarche, Decreased serum insulin-like growth factor 1, Short long ...	OMIM:262500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos...	OMIM:603553
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger...	ORPHA:672
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy, Agitation	ORPHA:927
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive...	OMIM:610042
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment	ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 7	Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Mot...	OMIM:614104
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom...	OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph...	OMIM:605373
Lopes-Maciel-Rodan Syndrome	Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation	OMIM:617435
Legionnaires Disease	Splenomegaly, Hyponatremia, Anorexia, Myocarditis, Endocarditis, Pericarditis	ORPHA:549
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Decreased response to growth hormone stimulation test, Intrauterine gro...	OMIM:614114
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Clinodactyly, Decreased response to growth hormone stimulation te...	OMIM:615866
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocarditis, Abnormal ...	ORPHA:31824
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hyponatremia, Decreased circulating cortisol level, Anorexia, Hyperk...	ORPHA:361
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Thicke...	OMIM:620558
Isolated Exencephaly	Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia	ORPHA:563612
Whipple Disease	Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Myocarditis, Hepatomegaly, Pericarditis	ORPHA:3452
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Mental deterioration, Insulin-resistant diabetes mellitus, Decreased r...	ORPHA:3464
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Somatomammotropinoma	Macrodactyly, Depression, Pituitary adenoma, Increased circulating prolactin concentration, Pitui...	ORPHA:314769
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re...	OMIM:615577
Microform Holoprosencephaly	Panhypopituitarism, Intrauterine growth retardation, Hypothyroidism, Maternal diabetes, Short sta...	ORPHA:280200
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Splenomegaly, Anorexia, Elevated circulating C-reactive protein concentration, H...	OMIM:619381
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul...	OMIM:618825
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Metaphyseal spurs, Irregular epiphyses, Small epiphyse...	OMIM:608728
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal bursts o...	ORPHA:228402
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ...	OMIM:275000
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Failure to thrive, Decreased response to growth hormone stimulation te...	OMIM:603467
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef...	OMIM:618183
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Pycnodysostosis	Small hand, Rhizomelia, Disproportionate short-limb short stature, Short finger, Decreased respon...	ORPHA:763
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,...	ORPHA:1667
Spondyloenchondrodysplasia	Hypoplastic ilia, Short distal phalanx of finger, Decreased response to growth hormone stimulatio...	ORPHA:1855
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor 1	ORPHA:79323
Diastrophic Dysplasia	Ulnar deviation of finger, Neonatal short-limb short stature, Disproportionate short-limb short s...	OMIM:222600
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho...	ORPHA:85327
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hypothyr...	OMIM:600430
Helsmoortel-Van Der Aa Syndrome	Small hand, Genu valgum, Cryptorchidism, Polyphagia, Dysphagia, Motor stereotypy, Prominent finge...	OMIM:615873
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Disproportionate short-limb short stature	OMIM:619479
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv...	ORPHA:90791
Progressive Supranuclear Palsy	Memory impairment, Falls, Cognitive impairment, Dementia, Unsteady gait, Dysphagia, Impulsivity, ...	ORPHA:683
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level	OMIM:300200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Intellectual Developmental Disorder, Autosomal Dominant 45	Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:617600
Infant Botulism	Hyponatremia, Dysphagia, Anorexia	ORPHA:178478
Hereditary Late-Onset Parkinson Disease	Mental deterioration, Shuffling gait, Akinesia, Agitation, Dementia, Dysphagia, Impulsivity	ORPHA:411602
Poems Syndrome	Hyperesthesia, Increased circulating prolactin concentration, Hypogonadism, Metaphyseal sclerosis...	ORPHA:2905
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Decreased response to growth hormone stimulation test, Inability to walk, Central a...	ORPHA:488632
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Severe Intellectual Disability And Progressive Spastic Paraplegia	Difficulty walking, Motor stereotypy, Waddling gait	ORPHA:280763
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased circulating p...	OMIM:131100
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate	ORPHA:2804
Eec Syndrome	Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Decreased response to growth hormone...	ORPHA:1896
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Thin vermilion border, Supernumerary tooth, Malar flattening, Thick vermilion border	ORPHA:86818
Monosomy 18Q	Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ...	ORPHA:1600
Orofaciodigital Syndrome I	Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o...	OMIM:311200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Short 5th toe, Cryptorchidism, Ataxia, Dysphagia, Posterior pituitary hypoplasi...	ORPHA:268261
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, M...	OMIM:234100
Rett Syndrome	Difficulty walking, Bruxism, Inability to walk, Increased serum leptin, Stereotypical hand wringi...	ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Acromegaly	Macrodactyly, Depression, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma...	ORPHA:963
Meier-Gorlin Syndrome 6	Severe short stature, Small for gestational age, Sandal gap, Failure to thrive, Decreased respons...	OMIM:616835
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Decreased response to growth hormone stimulation test, Postnatal growth ret...	OMIM:213980
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste...	ORPHA:313892
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Parkinson Disease 17	Akinesia	OMIM:614203
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Mental deterioration, Self-mutilation, Stereotypica...	ORPHA:163681
Acromicric Dysplasia	Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, ...	OMIM:102370
Arthrogryposis, Distal, Type 12	High palate, Dental crowding, Agenesis of maxillary incisor	OMIM:620545
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Cryptor...	OMIM:613457
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Th...	ORPHA:64744
Christianson Syndrome	Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor stereotypy	ORPHA:85278
Histidinemia	Hyperactivity	ORPHA:2157
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Hypogonadism, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy	ORPHA:3306
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Contracture of the proximal interphalangea...	OMIM:618223
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Motor stereotypy, Choreoathetosis, Ataxia	OMIM:619317
Hypophosphatasia, Adult	Carious teeth, Premature loss of primary teeth, Premature loss of permanent teeth	OMIM:146300
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Adrenomyeloneuropathy	Memory impairment, Adrenal insufficiency, Primary adrenal insufficiency, Distal sensory impairmen...	ORPHA:139399
Cleidocranial Dysplasia 1	High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s...	OMIM:119600
Smith-Magenis Syndrome	Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Hyperactivity,...	OMIM:182290
48,Xxyy Syndrome	Depression, Type II diabetes mellitus, Attention deficit hyperactivity disorder, Ataxia, Motor st...	ORPHA:10
Microphthalmia, Syndromic 3	Postnatal growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamarto...	OMIM:206900
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Parkinson Disease 23, Autosomal Recessive Early-Onset	Dementia, Mental deterioration, Akinesia	OMIM:616840
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:616393
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk...	ORPHA:95409
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy	ORPHA:447997
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy, Ataxia	OMIM:619725
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618504
Neuroblastoma	Elevated circulating catecholamine level, Antalgic gait, Irritability, Weight loss, Ataxia	ORPHA:635
Oslam Syndrome	Carious teeth	ORPHA:2760
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Aceruloplasminemia	Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Ataxia, Diabetes mel...	ORPHA:48818
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Abnormality of the anterior pituitary, Postaxial hand polydactyl...	ORPHA:75389
Rothmund-Thomson Syndrome	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,...	ORPHA:2909
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Anhidrosis	ORPHA:441
Holoprosencephaly	Failure to thrive in infancy, Panhypopituitarism, Chorea, Cryptorchidism, Hand polydactyly, Cogni...	ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia	OMIM:617913
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 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301013
Alg8-Cdg	Hyponatremia	ORPHA:79325
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Metaphyseal cupping, Clubbing of fingers, Hip contracture, Bowing of the lo...	OMIM:156400
Mccune-Albright Syndrome	Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent...	ORPHA:562
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Depression, Hostility, Inability to walk, Bruxism, Repetitive compulsive behavior, Dysphagia, Ata...	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Irritability, Hypothyroidism, Hyperactivity, Pica, Motor stereotypy	OMIM:617796
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs...	OMIM:265800
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi...	ORPHA:1507
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Akinesia, Freezing of gait	OMIM:619911
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g...	OMIM:619121
Congenital Myopathy 9A	Akinesia	OMIM:618822
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia	ORPHA:530983
Potocki-Lupski Syndrome	Hypothyroidism, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia	OMIM:610883
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Agenesis of permanent teeth, Micrognathia, Micr...	OMIM:268400
Coffin-Siris Syndrome 6	Tics, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617808
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Duplication Of The Pituitary Gland	Supernumerary tooth, Wide mouth, Retrognathia, Cleft palate	ORPHA:314621
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy	OMIM:300486
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Cog...	ORPHA:309246
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Male hypogonadism, Memory impairment, Difficulty walking, Confusion, Inabil...	ORPHA:139396
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Mental deterioration, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturb...	OMIM:234200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Motor stereotypy, Ataxia	OMIM:619092
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar...	ORPHA:2108
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Gabriele-De Vries Syndrome	Sandal gap, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Bre...	ORPHA:506358
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Disproportionate short stature, Small epiphyses, Genu valgum, Obesity, Hip contracture, Short sta...	OMIM:618363
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Motor stereotypy, Precocious puberty	OMIM:619877
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Short stature, Diabetes insipi...	ORPHA:264200
Glucagonoma	Depression, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac...	ORPHA:97280
Hennekam Syndrome	Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Abnorma...	ORPHA:2136
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Clinodactyly, Pancreatic hypoplasia, Tibial torsion, Decreased response...	OMIM:602782
Necrotizing Enterocolitis	Hyponatremia, Abnormal heart morphology	ORPHA:391673
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Small for gestational age, Prominent fingertip pads, Decreased response to gr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Small for gestational age, Prominent fingertip pads, Decreased response to gr...	ORPHA:363958
Familial Adenomatous Polyposis 1	Carious teeth, Odontoma, Eruption failure, Supernumerary tooth	OMIM:175100
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Mental deterioration, Depression, Head-banging, Falls, Brux...	ORPHA:2388
Alg12-Cdg	Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe...	ORPHA:79324
Steinert Myotonic Dystrophy	Mental deterioration, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Em...	ORPHA:273
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov...	OMIM:610505
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:90790
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper...	OMIM:203800
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly, Dysphagia	OMIM:619751
Lacrimoauriculodentodigital Syndrome 2	Hypodontia, Conical tooth, Carious teeth, Microdontia	OMIM:620192
Pearson Syndrome	Growth delay, Decreased response to growth hormone stimulation test, Exocrine pancreatic insuffic...	ORPHA:699
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Unsteady gait, Broad-based gait	OMIM:618205
Autosomal Dominant Robinow Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Retrognathia, Open bite, Microgn...	ORPHA:3107
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy	OMIM:618430
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy	OMIM:301094
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv...	ORPHA:289548
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:138
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Chime Syndrome	Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hypodontia, Thick vermilio...	ORPHA:3474
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Prostatitis, Delayed puberty, Short stature	OMIM:307200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Failure to thriv...	ORPHA:168558
Cri-Du-Chat Syndrome	Difficulty walking, Oppositional defiant disorder, Short attention span, Self-mutilation, Overfri...	OMIM:123450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Failure to thrive, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Postnata...	OMIM:616263
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Odontochondrodysplasia 1	Metaphyseal cupping, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges...	OMIM:184260
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Motor stereotypy	OMIM:613443
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Disproportionate short stature, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of th...	OMIM:609616
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd...	OMIM:603671
Intellectual Developmental Disorder, X-Linked 98	Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, St...	OMIM:300912
Addison Disease	Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Anorexia, Hyperk...	ORPHA:85138
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79473
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Motor stereotypy	ORPHA:411986
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
22Q11.2 Duplication Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Aplasia/Hypopla...	ORPHA:1727
Shigellosis	Hyponatremia, Abnormal blood ion concentration, Myocarditis, Anorexia	ORPHA:810
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia...	ORPHA:464306
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi...	ORPHA:247585
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Wide distal femoral metaphysis, Postnatal g...	OMIM:613320
Houge-Janssens Syndrome 3	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Alazami Syndrome	Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing	ORPHA:319671
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Dental malocclusion, Pursed lips, Long philtrum, Micrognathia, Narrow mouth...	ORPHA:800
Blepharophimosis-Impaired Intellectual Development Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend...	OMIM:619293
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Irregular epiphyses of the metacarpals, Short stature, Brachydactyly, Sho...	OMIM:614078
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steato...	ORPHA:275761
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Coffin-Siris Syndrome 7	Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity	OMIM:618027
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Difficulty walking, Gait ataxia, Broad-based gait, Motor stereotypy	OMIM:617807
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-...	ORPHA:457395
Transketolase Deficiency	Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Comp...	ORPHA:488618
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Short stature	OMIM:617260
Lenz-Majewski Hyperostotic Dwarfism	Short stature, Intrauterine growth retardation, Cryptorchidism, Anterior pituitary hypoplasia	OMIM:151050
Cystinosis	Type I diabetes mellitus, Polydipsia, Hypothyroidism, Gait disturbance, Delayed puberty, Nephroge...	ORPHA:213
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Radio-Tartaglia Syndrome	Precocious puberty, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder...	OMIM:619312
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Bruxism, Motor stereotypy, Inability to walk	OMIM:618004
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Broad-based gait, Motor stereotypy	OMIM:616351
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo...	OMIM:219090
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Severe short stature, Broad thumb, Monkey wrench femoral ...	OMIM:615777
Supranuclear Palsy, Progressive, 2	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Dysphagia	OMIM:609454
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke...	OMIM:219800
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Epiphyseal stippling, Short 4th metacarpal, Short long bone, S...	OMIM:118651
Postencephalitic Parkinsonism	Akinesia, Dysphagia	ORPHA:97349
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Motor stereotypy	OMIM:618067
Gardner Syndrome	Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma	ORPHA:79665
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Pseudobulbar paralysis	ORPHA:79276
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia...	OMIM:617061
Rett Syndrome, Congenital Variant	Bruxism, Irritability, Tongue thrusting, Athetosis, Motor stereotypy	OMIM:613454
Smith-Lemli-Opitz Syndrome	Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:818
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Decreased response to growth hormone stimulation test, Low frustration tol...	OMIM:619503
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hyponatremia, Hyp...	ORPHA:167
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Choreoathetosis	OMIM:618249
Intellectual Developmental Disorder, Autosomal Dominant 48	Motor stereotypy, Hyperactivity	OMIM:617751
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnorm...	ORPHA:93316
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Failure to thrive, Thumb contracture, Anterior hypopituitarism...	OMIM:607932
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati...	ORPHA:89938
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ...	ORPHA:3455
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Matern...	ORPHA:93346
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Diminished ability to concentrate, Attention deficit hyperactivity disorder, A...	OMIM:615656
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
Japanese Encephalitis	Hyponatremia, Anorexia	ORPHA:79139
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Disproportionate short-limb short...	OMIM:250420
Orthostatic Hypotension 1	Brachydactyly, Reduced circulating prolactin concentration	OMIM:223360
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Trident hand, Brachydactyly, Short ...	OMIM:146000
Ritscher-Schinzel Syndrome 4	Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity	OMIM:619435
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention deficit hyperac...	ORPHA:534
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Type II diabetes mellitus, Arachnodact...	OMIM:613406
Smith-Magenis Syndrome	Self-injurious behavior, Precocious puberty, Attention deficit hyperactivity disorder, Gait distu...	ORPHA:819
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc...	OMIM:601559
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Akinesia, Dysphagia	OMIM:608013
4Q21 Microdeletion Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:238750
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f...	OMIM:609152
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Hypothyroidism	OMIM:619147
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Cryptorchidism, Hypoplasia of t...	ORPHA:2256
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat...	OMIM:268305
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Primary hypercortisolism, Adrenocorticotropic hormone excess, Anorexia...	ORPHA:100079
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral neck, Rhizomelia,...	OMIM:611209
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature, Short toe, Postnatal growt...	ORPHA:709
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy	OMIM:619103
Congenital Myopathy 12	Akinesia	OMIM:612540
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Motor stereotypy, Diabetes mellitus	ORPHA:500159
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Supranuclear Palsy, Progressive, 1	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Dysphagia	OMIM:601104
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Micrognathia, Median cleft upper lip, Smooth ph...	ORPHA:96149
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
White-Sutton Syndrome	Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics...	OMIM:616364
African Trypanosomiasis	Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Abnormality of circulatin...	ORPHA:3385
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Microphthalmia, Syndromic 2	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar...	OMIM:300166
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Hypoplasti...	OMIM:611717
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Craniosynostosis And Dental Anomalies	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ...	OMIM:614188
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ...	ORPHA:457279
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Charge Syndrome	Bifid femur, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Short thumb, Hand monodact...	OMIM:214800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Motor stereotypy, Dysphagia	OMIM:617802
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Micrognathia, Bifid tongue, Super...	OMIM:615948
Achondroplasia	Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Obesity, Trident hand, Narro...	ORPHA:15
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume...	ORPHA:733
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance...	OMIM:300352
Lysinuric Protein Intolerance	Failure to thrive, Decreased response to growth hormone stimulation test, Oral aversion, Lethargy...	ORPHA:470
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi...	OMIM:619991
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Motor stereotypy, Compulsive behaviors	OMIM:613174
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Decreased response to growth hormone stimulation test,...	ORPHA:444077
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Motor stereotypy, Ataxia	OMIM:619428
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia	ORPHA:572013
Chilton-Okur-Chung Neurodevelopmental Syndrome	Intrauterine growth retardation, Cryptorchidism, Attention deficit hyperactivity disorder, Anteri...	OMIM:619841
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Short attention span, Gait ataxia, Dysmetria, Hyperactivity, Dysphagia, Dys...	OMIM:610217
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Mesiodens, Narrow mouth, Long philtrum, Thick lower lip vermilion	ORPHA:314647
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P...	OMIM:620330
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog...	ORPHA:85167
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Motor stereotypy, Overfriendliness	OMIM:616579
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Dental crowding, Dental malocclusion, Hypodontia, Talon cusp, Narrow ...	ORPHA:353281
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bifid tongue, Supernumerary toot...	ORPHA:434179
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n...	OMIM:181450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Comp...	ORPHA:476126
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,...	OMIM:615503
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Fl...	OMIM:187600
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis	ORPHA:544482
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	ORPHA:435638
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Upper limb undergrowth, Dysp...	ORPHA:94068
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft upper lip, Hypodontia, Supernumerary tooth, Accessory oral frenulum	OMIM:617088
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Flared metaphysis, Short finger, Postnatal growth retardation, F...	OMIM:608940
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Disproportionate short-trunk short stature, Broad phalanx, Flat acetabular roof...	OMIM:300106
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed puberty, Anterior pituita...	ORPHA:466791
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Xerostomia, Ectrodactyly, Decreased response to growth hormone stimulation test, ...	OMIM:604292
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Broad-based gait, Increased circulating prolactin concentration, Inability to...	ORPHA:438213
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponatrem...	ORPHA:731
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat...	ORPHA:93357
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Inability to walk, Short attention span, Emotional lability, Spastic ataxia, Motor stereotypy	ORPHA:300570
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit...	ORPHA:99819
Proximal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis	ORPHA:261197
2Q37 Microdeletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:1001
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami	OMIM:610828
Rauch-Steindl Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:619695
Nmda Receptor Encephalitis	Depression, Memory impairment, Neoplasm of the thymus, Confusion, Short attention span, Motor ste...	ORPHA:217253
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:620494
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Xerostomia, Decreased response to growth hormone stimulation test, Cryptorchidism...	OMIM:129900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Neonatal short-limb short stature, Radial bowi...	OMIM:151210
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Head-banging, Frequent temper tantrums, Short attention span, Attention ...	OMIM:619575
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Carious teeth, Dental crowding, Natal tooth, Dental malocclusion, Micrognathia, Hy...	ORPHA:353277
Den Hoed-De Boer-Voisin Syndrome	Inability to walk, Short attention span, Stereotypical hand wringing, Dysphagia, Ataxia, Motor st...	OMIM:619229
Xylt1-Cdg	Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Short clavicles, Short long bone, Tru...	ORPHA:370930
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Abnormal circulating osteocalcin level, Clinodactyly, Upper limb ...	ORPHA:93315
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Hypoplastic ilia, Broad long bones, Clubbing of fingers, Cryptorchidism, Sh...	ORPHA:1865
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma...	ORPHA:892
Bloom Syndrome	Agenesis of maxillary lateral incisor, Malar flattening	OMIM:210900
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Finger synda...	ORPHA:1106
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho...	OMIM:215150
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit...	ORPHA:424
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Apl...	ORPHA:2502
Phelan-Mcdermid Syndrome	Broad-based gait, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Motor stereotypy	OMIM:606232
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Metaphyseal cupping, Disproportionate short-limb short...	OMIM:215140
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Emotional lability, Cognitive impairment, Ataxia, Tics, Motor stereotypy, Depre...	OMIM:619475
Joubert Syndrome 6	Motor stereotypy, Ataxia	OMIM:610688
Dpagt1-Cdg	Head-banging, Inability to walk, Stereotypical body rocking, Akinesia, Aggressive behavior, Ataxia	ORPHA:86309
Niemann-Pick Disease, Type C2	Dementia, Motor stereotypy, Dysphagia, Ataxia	OMIM:607625
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Neonatal short-limb short stature, Broad long bones, Bowing of the long bon...	OMIM:224400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor...	ORPHA:93352
Congenital Disorder Of Glycosylation, Type Iia	Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor stereotypy	OMIM:212066
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Motor stereotypy, Ataxia	ORPHA:2479
Foxg1 Syndrome Due To 14Q12 Microdeletion	Motor stereotypy	ORPHA:261144
Myhre Syndrome	Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Hypopla...	OMIM:139210
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Fractured rib, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long b...	OMIM:618188
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Tip-toe gait, Varus deformity of humer...	OMIM:252500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Hypop...	OMIM:271640
Kleefstra Syndrome 1	Compulsive behaviors, Aggressive behavior, Motor stereotypy	OMIM:610253
Atelosteogenesis Type I	Rhizomelia, Abnormal pancreatic duct morphology, Neonatal short-trunk short stature, Abnormal oss...	ORPHA:1190
Autoimmune Polyendocrinopathy Type 3	Thymoma, Type I diabetes mellitus, Xerostomia, Graves disease, Anterior pituitary dysgenesis, Aut...	ORPHA:227982
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Inappropriate laughter, Motor stereotypy	OMIM:615802
Congenital Disorder Of Glycosylation, Type Iiw	Ankyloglossia, Micrognathia, Supernumerary tooth	OMIM:619525
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
White-Sutton Syndrome	Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy	ORPHA:468678
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia	ORPHA:90794
Multiple Osteochondromas	Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Abnormal fibula morphology, Abn...	ORPHA:321
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Rhizomelia, Disproportionate short-limb short stature, Radial bowing, Short ...	OMIM:618019
Monosomy 22Q13.3	Bruxism, Hyperactivity, Hair-pulling	ORPHA:48652
Bainbridge-Ropers Syndrome	Self-injurious behavior, Precocious puberty, Inability to walk, Recurrent hand flapping, Motor st...	OMIM:615485
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Femoral bowing, Intrauterine growth retardation, Hypoplasia of the thymus, A...	OMIM:617022
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, Inability to walk	ORPHA:457351
8Q24.3 Microdeletion Syndrome	Microretrognathia, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Mesiodens, Cleft max...	ORPHA:508488
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Dispropor...	OMIM:250220
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp...	ORPHA:580
Kleefstra Syndrome	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation	ORPHA:261494
Developmental And Epileptic Encephalopathy 2	Inability to walk, Motor stereotypy	OMIM:300672
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Motor stereotypy, Choreoath...	ORPHA:522077
Autoimmune Polyendocrinopathy Type 4	Thymoma, Type I diabetes mellitus, Xerostomia, Anterior pituitary dysgenesis, Central diabetes in...	ORPHA:227990
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation	OMIM:619005
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism...	ORPHA:96121
Peters-Plus Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Micrognathia, Sho...	OMIM:261540
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Motor stereotypy, Dysphagia, Ataxia	ORPHA:496641
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test	OMIM:180500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchidism, Fibular hypopl...	OMIM:616300
Cornelia De Lange Syndrome 6	Compulsive behaviors, Hair-pulling	OMIM:620568
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia	OMIM:619534
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Motor stereotypy, Impuls...	OMIM:301030
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s...	OMIM:201750
Pitt-Hopkins Syndrome	Self-injurious behavior, Gait ataxia, Motor stereotypy	OMIM:610954
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste...	OMIM:619512
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Aggressive behavior, Motor stereotypy, Short attention span	OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy, Posterior pituitary...	ORPHA:464311
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di...	OMIM:614756
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Enlarge...	ORPHA:449563
Igg4-Related Kidney Disease	Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Weight loss, Thyr...	ORPHA:449395
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Motor stereotypy	OMIM:617330
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Motor stereotypy, Dysphagia, Choreoathetosis	OMIM:619777
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Motor stereotypy	ORPHA:508533
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Motor stereotypy	OMIM:301040
Kinsship Syndrome	Bruxism, Motor stereotypy	OMIM:619297
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Broad metacarpals, Disproportionate short-limb sh...	OMIM:271665
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Pineal...	ORPHA:513456
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Motor stereotypy	OMIM:618653
Ogden Syndrome	Maternal diabetes, Motor stereotypy, Dysphagia, Irritability	OMIM:300855
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c...	ORPHA:79318
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Motor stereotypy	ORPHA:468631
Norrie Disease	Self-injurious behavior, Irritability, Attention deficit hyperactivity disorder, Delayed puberty,...	ORPHA:649
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Motor stereotypy, Precocious puberty	OMIM:616682
Infantile Dystonia-Parkinsonism	Chorea, Irritability, Bradykinesia	ORPHA:238455
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy	ORPHA:508498
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Motor stereotypy, Hyperactivity	OMIM:309590
1P36 Deletion Syndrome	Self-injurious behavior, Hypogonadism, Polyphagia, Gait disturbance, Hypothyroidism, Dysphagia, M...	ORPHA:1606
Primrose Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Hypothyro...	OMIM:259050
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Orofacial cleft, Agenes...	OMIM:309800
Arboleda-Tham Syndrome	Gait imbalance, Motor stereotypy, Dysphagia	OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Motor stereotypy	OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia	OMIM:619522
Coffin-Siris Syndrome 12	Hypothyroidism, Motor stereotypy	OMIM:619325
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Motor stereotypy	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy	OMIM:309000
Wolf-Hirschhorn Syndrome	Precocious puberty, Motor stereotypy	OMIM:194190
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia	OMIM:613135
Mowat-Wilson Syndrome	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Ataxia, Motor stereotypy	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Motor stereotypy	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Motor stereotypy	ORPHA:261552

Histopathology

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

There is no histopathology data for Slc6a3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc6a3.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Distinct Connectivity and Functionality of Aldehyde Dehydrogenase 1a1-Positive Nigrostriatal Dopaminergic Neurons in Motor Learning.	Cell reports (July 2019)	Slc6a3^{tm1a(KOMP)Wtsi}	PMC6741442

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

MGI Allele	Allele Type	Produced
Slc6a3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc6a3^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Slc6a3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc6a3 MGI:94862

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

X-ray

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Eye Morphology

Electroretinography 2

Auditory Brain Stem Response

Human diseases caused by Slc6a3 mutations

Histopathology

IMPC related publications

External links

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Access Data Release 21.1 Data