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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
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
hyperactivity	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	4.95×10^-09
increased heart weight	Slc6a3^{tm1b(KOMP)Wtsi}	HET	Early adult	4.61×10^-10
absent teeth	Slc6a3^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.63×10^-07

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	Not available
Spleen	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	50% (1 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
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)
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)
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)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
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)
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.

Adult LacZ

LacZ Images Section

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Electroretinography 2

Rod and cone PDF

2 Images

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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 (862 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		Bradykinesia, Irritability, Chorea	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	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Mania, Depression	OMIM:125480
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	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
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Isolated Growth Hormone Deficiency, Type Iv	Decreased serum insulin-like growth factor 1, Severe short stature, Decreased response to growth ...	OMIM:618157
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Pituitary dwarfism, Severe short stature, Decreased...	OMIM:173100
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Autism, Susceptibility To, X-Linked 3	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300425
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Pituitary Hormone Deficiency, Combined, 3	Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Anterio...	OMIM:221750
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Isolated Growth Hormone Deficiency, Type Ib	Acromicria, Reduced circulating growth hormone concentration, Decreased response to growth hormon...	OMIM:612781
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Autism	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:209850
Autism, Susceptibility To, 8	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:607373
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
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	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:231720
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Taurodontism	Taurodontia	OMIM:272700
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes...	OMIM:618160
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism, Short stature	ORPHA:631
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Pituitary Dwarfism With Large Sella Turcica	Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio...	OMIM:262710
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, 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	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Panhypopituitarism, X-Linked	Pituitary dwarfism, Panhypopituitarism	OMIM:312000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan...	OMIM:612079
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Increased serum serotonin, Truncal ataxia, Abnormal repetiti...	OMIM:608636
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha...	OMIM:300148
Joubert Syndrome 26	Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central...	OMIM:616784
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Small for gestational age, Cryptor...	ORPHA:3363
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s...	ORPHA:100083
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Sandal gap, Cognitive impairment	ORPHA:2022
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Ethanolaminosis	Cardiomegaly	OMIM:227150
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Rhyns Syndrome	Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Small epiphyses,...	ORPHA:140976
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Bonnemann-Meinecke-Reich Syndrome	Short stature, Decreased response to growth hormone stimulation test	ORPHA:1261
Cog2-Cdg	Psychomotor deterioration, Small pituitary gland	ORPHA:435934
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612702
Septooptic Dysplasia	Short stature, Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterio...	OMIM:182230
Autism, Susceptibility To, X-Linked 2	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300495
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Kearns-Sayre Syndrome	Anterior hypopituitarism, Ataxia	ORPHA:480
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner...	OMIM:614063
4H Leukodystrophy	Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho...	ORPHA:289494
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Oliver-Mcfarlane Syndrome	Severe short stature, Small for gestational age, Hypogonadotropic hypogonadism, Decreased respons...	OMIM:275400
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Small pituitary gland	OMIM:614880
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce...	OMIM:613038
Galloway-Mowat Syndrome 6	Short stature, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:618347
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
8p23.1 deletion syndrome	Atrial septal defect, Hyperactivity, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	ORPHA:67045
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Septopreoptic Holoprosencephaly	Short attention span, Impulsivity, Precocious puberty, Dysphagia, Anterior hypopituitarism, Centr...	ORPHA:280195
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Aggressive b...	OMIM:615286
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Triple A Syndrome	Anterior hypopituitarism, Short stature, Adrenal insufficiency, Ataxia	ORPHA:869
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia	OMIM:304800
Hypertriglyceridemia 1	Hypopituitarism	OMIM:145750
Short Stature-Wormian Bones-Dextrocardia Syndrome	Short stature, Camptodactyly of finger, Cryptorchidism, Cognitive impairment, Anterior hypopituit...	ORPHA:2863
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Myasthenic Syndrome, Congenital, 22	Waddling gait, Short stature, Decreased response to growth hormone stimulation test	OMIM:616224
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret...	OMIM:616113
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner...	OMIM:612069
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Overweight, Self-mutilation...	ORPHA:457240
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Culler-Jones Syndrome	Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Hypogo...	OMIM:615849
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis, Short distal phalanx of finger	ORPHA:181
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata...	ORPHA:453533
Rhyns Syndrome	Radial bowing, Short stature, Decreased response to growth hormone stimulation test, Pituitary hy...	OMIM:602152
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Decreased resp...	ORPHA:1263
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:163976
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test	OMIM:245590
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ...	ORPHA:2410
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters	OMIM:226650
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hepatomegaly, Ano...	ORPHA:3008
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609757
Insulin-Like Growth Factor I Deficiency	Short attention span, Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature,...	OMIM:608747
Nephrogenic Diabetes Insipidus	Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Hyperprolactinemia	Increased circulating prolactin concentration	OMIM:615555
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,...	ORPHA:485405
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes...	OMIM:614732
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms	OMIM:619150
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Decreased response to growth hormone stimulation ...	OMIM:216100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype...	OMIM:615751
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas...	OMIM:619476
Pallister-Hall-Like Syndrome	Toe syndactyly, Short stature, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polyda...	OMIM:241800
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypothyroidism, Hypopituitarism, Arachnodactyly, Short stature	OMIM:619013
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Anorexia	ORPHA:178029
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H...	ORPHA:94093
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Short stature, Depr...	OMIM:601853
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder	OMIM:617113
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Autism, Susceptibility To, 3	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:608049
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu...	ORPHA:91351
Giant Axonal Neuropathy	Unsteady gait, Abnormal pituitary gland morphology, Genu valgum, Distal sensory impairment, Falls...	ORPHA:643
Xq21 Microdeletion Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adre...	ORPHA:1435
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Short stature, Gait ataxia, Intrauterine growth retardation, Panhypopituitarism...	OMIM:300953
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan...	ORPHA:240094
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel...	OMIM:607454
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Ataxia, Short stature, Inability to walk, Dysmetria, Limb ataxia, Distal sensory...	OMIM:617675
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Decreased response to growth hormone stimulation test, Elevated circula...	OMIM:610978
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:98793
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr...	ORPHA:90674
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:177904
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:177901
Immunodeficiency 54	Short stature, Postnatal growth retardation, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia	OMIM:605899
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Manganese Poisoning	Confusion, Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughte...	ORPHA:306682
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Growth delay, Hypopituitarism, Failure to thrive, Hypohidrosis	ORPHA:98813
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Addictive alcohol use, Cognitive impairment, Memory impairm...	ORPHA:90065
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Proximal placem...	ORPHA:94065
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Hip dislocation, Decreased response to growth hormone stimulation test, Short stature, Genu valgum	ORPHA:436174
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature, Decreased response to...	ORPHA:363528
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Hypopituitarism, Failure to thrive, Delayed puberty	OMIM:600462
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Decreased response to growth hormone stimulation test, Sho...	OMIM:180860
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Short foot, Gro...	OMIM:601427
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f...	ORPHA:93308
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Webb-Dattani Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:615926
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Snakebite Envenomation	Hypopituitarism, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Dysphagia, ...	OMIM:618922
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Acrootoocular Syndrome	Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decreased response to growth hormon...	ORPHA:2980
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb	OMIM:618624
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp...	ORPHA:52901
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade...	ORPHA:97289
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Spinocerebellar Ataxia Type 21	Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test, Ataxia	ORPHA:324737
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	ORPHA:478
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc...	ORPHA:3473
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hyp...	ORPHA:449291
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ...	OMIM:101800
Prader-Willi Syndrome	Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio...	ORPHA:739
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Decreased circulating ACTH co...	ORPHA:199299
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Absence of pubertal develo...	ORPHA:398069
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Failure to thrive in infancy, Ge...	ORPHA:231226
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Absence of...	ORPHA:398079
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Gr...	OMIM:617784
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-indu...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Cohen Syndrome	Short metacarpal, Small for gestational age, Decreased response to growth hormone stimulation tes...	OMIM:216550
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:2232
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Perry Syndrome	Akinesia, Frontotemporal dementia, Inappropriate behavior, Disinhibition, Short stepped shuffling...	OMIM:168605
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen...	ORPHA:100924
Fg Syndrome Type 1	Cryptorchidism, Short stature, Small pituitary gland, Attention deficit hyperactivity disorder	ORPHA:93932
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogonadotropic h...	OMIM:176270
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Hyperthyroidism, Short stature, Dysmetria, Depression, Growth delay,...	ORPHA:502423
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi...	OMIM:617695
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Short stature, Decreased response...	ORPHA:319182
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas...	ORPHA:502
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Abnormal r...	ORPHA:561854
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Severe short stature, Decreased response to growth hormone stimulation tes...	OMIM:618336
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat...	ORPHA:280679
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Dementia, Akinesia, Aggressive behavior	OMIM:300894
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Pituitary Gigantism	Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l...	ORPHA:99725
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Spermatogenic Failure, X-Linked, 4	Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic...	OMIM:301077
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Beta-Thalassemia Major	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Failure to thrive in infancy, Ge...	ORPHA:231214
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc...	ORPHA:98818
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder	OMIM:617182
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Pseudohypoparathyroidism Type 1B	Short stature, Cortical subperiosteal resorption of humeral metaphyses, Decreased response to gro...	ORPHA:94089
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Preaxial foot polydactyly, Hy...	ORPHA:1827
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long...	ORPHA:77258
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ...	OMIM:609053
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Impulsivity, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai...	ORPHA:240071
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Septo-Optic Dysplasia Spectrum	Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormality of t...	ORPHA:3157
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Hydranencephaly	Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ...	ORPHA:2177
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Solitary Median Maxillary Central Incisor	Anterior hypopituitarism, Short stature, Decreased response to growth hormone stimulation test	OMIM:147250
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Congenital hip dislocation, Short stature, Decreased response to growth hormo...	OMIM:616007
Deeah Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:619004
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv...	OMIM:618917
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Depression, Dysphagia, Abnormal repetitive mannerisms	DECIPHER:45
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent...	OMIM:261600
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Hyperthyroidi...	ORPHA:249
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o...	ORPHA:79264
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Corticobasal Syndrome	Memory impairment, Dementia, Gait disturbance, Akinesia	ORPHA:454887
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Small for gestational age, Decreased response to growth hormone stimulation test, Pre...	ORPHA:96182
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Compulsive ...	ORPHA:177907
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Abnormal synaptic transmission, Dementia, Falls, Cognitive impairment...	ORPHA:683
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma...	ORPHA:220386
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Intrauteri...	OMIM:220210
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Short stature, Decreased response to growth hormone stimulation test, Bilateral c...	OMIM:619234
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Frontorhiny	Camptodactyly of finger, Finger clinodactyly, Hypopituitarism, Diabetes insipidus, Brachydactyly	ORPHA:391474
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Shwachman-Diamond Syndrome	Short attention span, Failure to thrive, Diabetes mellitus, Short stature, Decreased response to ...	ORPHA:811
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dementia	ORPHA:248111
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior	ORPHA:382
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im...	ORPHA:247234
Prolactin Deficiency, Isolated	Reduced circulating prolactin concentration	OMIM:264110
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Gait disturbance,...	ORPHA:43
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Cardiofaciocutaneous Syndrome 4	Short stature, Decreased response to growth hormone stimulation test, Hyperhidrosis	OMIM:615280
Isolated Biliary Atresia	Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive...	ORPHA:30391
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Preaxial hand po...	ORPHA:96179
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Flattened epiphysis, Genu valgum, Ulnar deviation of ...	OMIM:222600
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai...	ORPHA:168491
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia	OMIM:606693
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Colchicine Poisoning	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia	OMIM:226700
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Pallister-Hall Syndrome	Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Paroxysmal bursts of laug...	ORPHA:672
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect	OMIM:608688
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Chromosome 18Q Deletion Syndrome	Broad-based gait, Toe syndactyly, Overlapping toe, Decreased response to growth hormone stimulati...	OMIM:601808
Laron Syndrome	Delayed menarche, Decreased serum insulin-like growth factor 1, Short long bone, Severe short sta...	OMIM:262500
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne...	ORPHA:927
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D...	ORPHA:98784
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting	OMIM:618314
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:614114
Legionnaires Disease	Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Endocarditis	ORPHA:549
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ...	OMIM:614104
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber...	OMIM:615866
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Wide pubic...	ORPHA:239
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Polydipsia	ORPHA:3452
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly, Elevated circulating growth hormo...	ORPHA:314769
Microform Holoprosencephaly	Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi...	ORPHA:280200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition...	OMIM:607485
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Waddling gait, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening...	OMIM:608728
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Hypoalbuminemia, H...	OMIM:619381
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de...	ORPHA:1667
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test	ORPHA:79323
Fanconi Anemia, Complementation Group F	Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ...	OMIM:603467
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S...	OMIM:603553
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st...	ORPHA:763
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, Skin-picking, Abnorm...	OMIM:600430
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Bowi...	ORPHA:1855
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Disproportionate short-limb short stature, Small pituitary gland	OMIM:619479
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Dementia, Agitation, Shuffling gait, Dysphagia, Mental deterioration	ORPHA:411602
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Compulsive beh...	OMIM:615873
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Supernumerary tooth, Thin vermilion border, Thick vermilion border	ORPHA:86818
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Tbck-Related Intellectual Disability Syndrome	Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism...	ORPHA:488632
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Decreased resp...	ORPHA:1896
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Abnormal repetitive mannerisms, Difficulty walking	ORPHA:280763
Monosomy 18Q	Arachnodactyly, Slender build, Short stature, Tapered finger, Bilateral cryptorchidism, Choreoath...	ORPHA:1600
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Self hugging, Head-banging, Onychotillomania, Ab...	OMIM:182290
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Stereotypical hand wringing, Prog...	ORPHA:163681
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly, Elevated circulating growth hormo...	ORPHA:963
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease...	OMIM:613986
Poems Syndrome	Diabetes mellitus, Metaphyseal sclerosis, Abnormality of the endocrine system, Primary adrenal in...	ORPHA:2905
Ppoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit...	ORPHA:97278
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Ataxi...	ORPHA:268261
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Decreased response to growth hormone st...	OMIM:213980
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h...	OMIM:252920
Parkinson Disease 17	Akinesia	OMIM:614203
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Histidinemia	Hyperactivity	ORPHA:2157
Meier-Gorlin Syndrome 6	Severe short stature, Sandal gap, Decreased response to growth hormone stimulation test, Small fo...	OMIM:616835
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Christianson Syndrome	Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms	ORPHA:85278
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Proportionate short stature, Bilateral ...	OMIM:613457
Adrenomyeloneuropathy	Dysesthesia, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Distal sensory im...	ORPHA:139399
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Familial Glucocorticoid Deficiency	Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Anorexia	ORPHA:361
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Postnatal grow...	ORPHA:289157
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Neoplasm o...	ORPHA:97261
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Dementia, Akinesia	OMIM:616840
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet...	ORPHA:3306
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth	OMIM:146300
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Microphthalmia, Syndromic 3	Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret...	OMIM:206900
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Developmental And Epileptic Encephalopathy 6B	Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia	OMIM:619317
48,Xxyy Syndrome	Ataxia, Hypergonadotropic hypogonadism, Depression, Type II diabetes mellitus, Attention deficit ...	ORPHA:10
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn...	OMIM:618183
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia	ORPHA:314621
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Oslam Syndrome	Carious teeth	ORPHA:2760
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Short stature, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Posterior pitui...	ORPHA:75389
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Alg8-Cdg	Hyponatremia	ORPHA:79325
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Waddling gait, Severe short statur...	OMIM:156400
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97283
Holoprosencephaly	Diabetes mellitus, Failure to thrive in infancy, Cryptorchidism, Chorea, Panhypopituitarism, Hand...	ORPHA:2162
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Necrotizing Enterocolitis	Hyponatremia, Abnormal heart morphology	ORPHA:391673
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Hypothyroidism, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitiv...	OMIM:617796
Pure Autonomic Failure	Anhidrosis, Abnormality of circulating catecholamine level	ORPHA:441
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Repetitive compulsive behavior, Inability to walk, Bruxism, Depression, Hostility, Dyspha...	OMIM:300260
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac...	OMIM:300986
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ...	ORPHA:1507
Congenital Myopathy 9A	Akinesia	OMIM:618822
Aceruloplasminemia	Diabetes mellitus, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairment, Memory impai...	ORPHA:48818
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Potocki-Lupski Syndrome	Hypothyroidism, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Gm2 Gangliosidosis, Ab Variant	Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Inappropriat...	ORPHA:309246
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Decreased circulating cortisol level, Hyperactivity, Ataxia, Confusion, Ina...	ORPHA:139396
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil...	OMIM:300486
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Dementia, Gait disturbance, Dyspha...	OMIM:234200
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Gabriele-De Vries Syndrome	Hallux valgus, Waddling gait, Sandal gap, Decreased response to growth hormone stimulation test, ...	ORPHA:506358
Acute Adrenal Insufficiency	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:95409
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97280
14Q22Q23 Microdeletion Syndrome	Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ...	ORPHA:264200
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Hypergonadotropic hypogonadism, Rocker bottom foot, Camptodactyly of finger, Decre...	OMIM:602782
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Rett Syndrome	Inability to walk, Gait disturbance, Agitation, Difficulty walking, Increased serum leptin, Abnor...	ORPHA:778
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume...	ORPHA:2136
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Koolen-De Vries Syndrome Due To A Point Mutation	Anomaly of lower limb diaphyses, Arachnodactyly, Decreased response to growth hormone stimulation...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Anomaly of lower limb diaphyses, Arachnodactyly, Decreased response to growth hormone stimulation...	ORPHA:363958
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Choreoacanthocytosis	Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	OMIM:610505
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ...	ORPHA:699
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Short stature, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:307200
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Charge Syndrome	Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Cryptorchidism, Abnor...	ORPHA:138
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin...	ORPHA:3107
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Shor...	ORPHA:3474
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive...	OMIM:123450
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Short stature, Metaphyseal widening, Flat acetabular roof, Cone-...	OMIM:184260
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ...	ORPHA:85327
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Diabetes mellitus, Pancreatic fibrosis, Proximal placement of ...	OMIM:616263
Alg12-Cdg	Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Hypoalbuminemia, Hyp...	ORPHA:79324
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereot...	OMIM:300912
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79473
Shigellosis	Hyponatremia, Myocarditis, Abnormal blood ion concentration, Anorexia	ORPHA:810
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Odont...	ORPHA:800
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t...	ORPHA:1727
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d...	ORPHA:488618
Dyrk1A-Related Intellectual Disability Syndrome	Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Intrauterine growth retardation, Br...	ORPHA:464306
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia	OMIM:602522
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia	OMIM:617807
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Oral-pharyngeal dysphagia, Hypomagnesemia, Splenomegaly, Reduced bloo...	OMIM:219800
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Cystinosis	Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty...	ORPHA:213
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Gait imbalance, Attention deficit h...	OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Developmental And Epileptic Encephalopathy 64	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Short stature, Anterior pituitary hypoplasia, Intrauterine growth retardation	OMIM:151050
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Monkey wrench femoral neck, Coxa va...	OMIM:615777
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test	OMIM:617260
Supranuclear Palsy, Progressive, 2	Akinesia, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia	OMIM:609454
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Pseudobulbar paralysis	ORPHA:79276
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Addison Disease	Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le...	ORPHA:85138
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,...	ORPHA:818
Postencephalitic Parkinsonism	Akinesia, Dysphagia	ORPHA:97349
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Brachydactyly	OMIM:223360
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Cryptorchidism, Low frustration tolerance,...	OMIM:619503
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b...	OMIM:615656
Rett Syndrome, Congenital Variant	Tongue thrusting, Athetosis, Irritability, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Failure to thrive, Adr...	OMIM:607932
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Long toe, Hyperthyroidism, Hypogonadotropi...	ORPHA:3455
Japanese Encephalitis	Hyponatremia, Anorexia	ORPHA:79139
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr...	ORPHA:167
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619435
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Smith-Magenis Syndrome	Precocious puberty, Hypothyroidism, Self-injurious behavior, Gait disturbance, Attention deficit ...	ORPHA:819
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short palm, C...	OMIM:613406
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin...	OMIM:609152
Gaucher Disease, Perinatal Lethal	Dysphagia, Akinesia, Progressive neurologic deterioration	OMIM:608013
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypothyroidism, Akinesia	OMIM:619147
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Neuroendocrine Neoplasm Of Appendix	Anorexia, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased s...	ORPHA:100079
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ...	ORPHA:3385
Congenital Myopathy 12	Akinesia	OMIM:612540
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A...	OMIM:616364
Supranuclear Palsy, Progressive, 1	Akinesia, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia	OMIM:601104
Distal Deletion 12Q	Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Long philtrum, Microglo...	ORPHA:96149
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypophosphatemia, Self-injurious behavior, Hypokalemia, Compulsive b...	ORPHA:534
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Peters Plus Syndrome	Toe syndactyly, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Short to...	ORPHA:709
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Charge Syndrome	Hypoparathyroidism, Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders...	OMIM:214800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hepatosplenomegaly, Hypercholesterolemia	ORPHA:275761
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Abnormal repetitive mannerisms	ORPHA:500159
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata...	OMIM:611717
Stuve-Wiedemann Syndrome 1	Tibial bowing, Femoral bowing, Hyperhidrosis, Short tibia, Short phalanx of finger, Short stature...	OMIM:601559
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Liver Disease, Severe Congenital	Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat...	OMIM:619991
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Cognitive impairment, Oral aversion, Failu...	ORPHA:470
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys...	OMIM:610217
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Attention deficit hyperactivity dis...	OMIM:619841
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder...	OMIM:300352
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small hand, Obesity, Fibula...	ORPHA:444077
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H...	OMIM:181450
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat...	ORPHA:434179
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha...	OMIM:620330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion...	ORPHA:353281
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,...	ORPHA:476126
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo...	OMIM:615503
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Myocarditis, Hyperkalemia, Hypocalcemia	ORPHA:544482
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, S...	OMIM:300106
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Median cleft lip, Hypodontia, Accessory oral frenulum	OMIM:617088
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentration, Polydips...	ORPHA:731
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De...	ORPHA:466791
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious ...	ORPHA:438213
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Inability to walk, Emotional lability, Abnormal repetitive ...	ORPHA:300570
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Absence of Stensen duct, Decreased response to growth hormone stimulation test, H...	OMIM:604292
Nmda Receptor Encephalitis	Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Depression, Choreoatheto...	ORPHA:217253
Holoprosencephaly 7	Fusion of the left and right thalami, Panhypopituitarism	OMIM:610828
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Proximal 16P11.2 Microdeletion Syndrome	Choreoathetosis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:261197
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive manner...	OMIM:619229
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353277
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Absence of Stensen duct, Decreased response to growth hormone stimulation test, H...	OMIM:129900
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Short stature, Avascular necrosis of the capital femoral epiphysis, Abnormal c...	ORPHA:93315
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Bloom Syndrome	Malar flattening, Agenesis of maxillary lateral incisor	OMIM:210900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:619575
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Bruxism, Abnormal repetit...	OMIM:606232
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ...	OMIM:619475
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica...	OMIM:212066
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer...	ORPHA:227982
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:424
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys...	ORPHA:227990
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long bon...	OMIM:618188
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rocking	ORPHA:86309
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca...	OMIM:271640
Myhre Syndrome	Overlapping toe, Ataxia, Small for gestational age, Short stature, Cryptorchidism, Short toe, 2-3...	OMIM:139210
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Micrognathia	OMIM:619525
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc...	ORPHA:805
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Bainbridge-Ropers Syndrome	Precocious puberty, Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal...	OMIM:615485
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Flared metaphysis,...	OMIM:618019
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Bruxism	ORPHA:48652
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Mesiodens, Cleft maxillary alveolar ridge, Long phil...	ORPHA:508488
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri...	ORPHA:522077
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det...	ORPHA:580
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Ataxia, Dysphagia	ORPHA:496641
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test	OMIM:180500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Bile duct proliferation, Diabetes insipidus, Anterior pituitary hypoplasia, Short stature	OMIM:619534
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	OMIM:301030
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Short attention span, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni...	ORPHA:449563
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Posterior pituitary hypoplasia, Gait disturbance, Abnormal repetitive mannerisms, Attention defic...	ORPHA:464311
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ...	OMIM:617330
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Developmental And Epileptic Encephalopathy 100	Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia	OMIM:619777
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:508533
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis, Pancr...	ORPHA:449395
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereotypical body ro...	ORPHA:513456
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Pmm2-Cdg	Hypogonadotropic hypogonadism, Ataxia, Elevated circulating growth hormone concentration, Long fi...	ORPHA:79318
Ogden Syndrome	Irritability, Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia	OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Norrie Disease	Diabetes mellitus, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorde...	ORPHA:649
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Precocious puberty, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Infantile Dystonia-Parkinsonism	Bradykinesia, Irritability, Chorea	ORPHA:238455
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia	OMIM:613135
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Primrose Syndrome	Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyp...	OMIM:259050
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat...	OMIM:309800
1P36 Deletion Syndrome	Hypothyroidism, Polyphagia, Self-injurious behavior, Gait disturbance, Hypogonadism, Dysphagia, A...	ORPHA:1606
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia	OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Coffin-Siris Syndrome 12	Hypothyroidism, Abnormal repetitive mannerisms	OMIM:619325
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Wolf-Hirschhorn Syndrome	Precocious puberty, Abnormal repetitive mannerisms	OMIM:194190
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms	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

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

Order Mouse and ES Cells

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

Adult LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Combined SHIRPA and Dysmorphology

Eye Morphology

Electroretinography 2

Auditory Brain Stem Response

Human diseases caused by Slc6a3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data