Gene: Bdnf MGI:88145

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

brain derived neurotrophic factor

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bdnf 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 Bdnf (2 diseases)
Human diseases predicted to be associated with Bdnf (1774 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wagr Syndrome		Obesity	ORPHA:893
Congenital Central Hypoventilation Syndrome		Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661

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

Disease	Matching phenotypes	Source
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hyperglycemia, Poly...	ORPHA:329249
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Frontal bossing, Cleft palate	OMIM:311895
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity, Tall stature	OMIM:618406
Burning Mouth Syndrome	Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Impaired tem...	ORPHA:353253
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity	ORPHA:71529
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
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
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,...	ORPHA:276580
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b...	OMIM:613641
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type I diabetes me...	ORPHA:276575
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
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
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum	ORPHA:46
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Hypoglycemia, Leucine-Induced	Irritability, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia	OMIM:240800
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly	OMIM:309545
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Deafness, Autosomal Dominant 9	Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve...	OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age	ORPHA:356996
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:369873
Summitt Syndrome	Obesity	OMIM:272350
Huntington Disease	Decreased body mass index, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Dep...	ORPHA:399
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Functional abnormality of the inner ear, Dysesthesia, Cranial nerve ...	ORPHA:268882
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Pick Disease Of Brain	Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep...	OMIM:172700
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy	OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus...	OMIM:619470
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma	OMIM:162091
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia	OMIM:600274
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity	OMIM:309585
Marcus-Gunn Syndrome	Cleft lip, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft palate	ORPHA:91412
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Brachycephaly, Narrow mouth	ORPHA:2528
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, High palate	OMIM:300983
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Gómez-López-Hernández Syndrome	Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion	ORPHA:1532
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Narcolepsy Type 1	Obesity	ORPHA:2073
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Superficial Siderosis	Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Unsteady gait, Dysmetri...	ORPHA:247245
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Brad...	OMIM:300894
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy, Short philtrum	OMIM:300928
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Cough, Inability to walk, Abnormal posturing, Opisthoton...	ORPHA:216866
6Q16 Microdeletion Syndrome	Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Dysphagia, Gait ataxia, Hand tremor, Atrophy/Degeneration a...	OMIM:617862
Non-Distal Duplication 10Q	Frontal bossing, Everted lower lip vermilion, High palate, Brachycephaly	ORPHA:1695
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth m...	ORPHA:1387
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Adiposis Dolorosa	Obesity, Depression	OMIM:103200
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Downturned corn...	OMIM:617752
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig...	ORPHA:314575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Potocki-Shaffer Syndrome	Turricephaly, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum	OMIM:601224
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Brunet-Wagner Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Thick vermilion border, Optic atrophy, Self-injurious behavior	OMIM:619690
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab...	OMIM:128100
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
9q subtelomeric deletion syndrome	Midface retrusion, Protruding tongue	DECIPHER:52
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia	OMIM:222100
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Ravine Syndrome	Ataxia, Apnea, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atro...	ORPHA:99852
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi...	ORPHA:33543
Hartnup Disorder	Glossitis	OMIM:234500
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deep philtrum, Brachycephaly	OMIM:618859
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Impulsivity, Chorea, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysph...	ORPHA:216873
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici...	OMIM:620065
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype...	OMIM:618709
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder...	ORPHA:35878
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Hyperesthesia	ORPHA:137596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at...	ORPHA:251282
Spinocerebellar Ataxia Type 1	Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal brainste...	ORPHA:98755
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Pachygyria, Abnormal repetitive mannerisms	OMIM:606053
Pulmonary Blastoma	Weight loss	ORPHA:64741
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty...	ORPHA:98764
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Tuberculosis	Weight loss	ORPHA:3389
Potocki-Shaffer Syndrome	Downturned corners of mouth, Short philtrum, Brachycephaly, Parietal foramina	ORPHA:52022
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Obesity, Hypogonadism, Skin-picking...	OMIM:615547
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ...	OMIM:619150
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait atax...	OMIM:609425
Bardet-Biedl Syndrome 5	Obesity	OMIM:615983
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Deafness-Craniofacial Syndrome	Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong...	ORPHA:3241
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp...	ORPHA:206448
Atypical Rett Syndrome	Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi...	ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Optic atrophy, Gingival overgrowth, Dysphagia, Choreoathetosis, High palate, Bilateral se...	OMIM:619422
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio...	OMIM:620270
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac...	OMIM:618774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Broad phi...	OMIM:618577
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ...	ORPHA:157941
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Manganese Poisoning	Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Irritability, Gait distu...	ORPHA:306682
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu...	OMIM:604757
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tr...	OMIM:607454
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-c...	ORPHA:263455
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Thin vermilion border, Widely spaced te...	ORPHA:487825
Auriculocondylar Syndrome 2A	Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:614669
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir...	OMIM:300942
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition	OMIM:618603
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil...	OMIM:616789
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft palate, Short ph...	OMIM:619504
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata...	OMIM:616204
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Akinesia, Optic neuropathy, Optic a...	OMIM:618249
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Dental crowding, Brachycephaly	ORPHA:320385
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Periventricular heterotopia, Macrotia, Self-biting, Recur...	OMIM:300624
8Q12 Microduplication Syndrome	Long philtrum, Everted lower lip vermilion, Brachycephaly, Narrow mouth	ORPHA:228399
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor, Oculomotor apraxia, Ataxia	OMIM:617121
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Brachycephaly, High palate	OMIM:615828
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Tented upper lip vermilion, Optic atrophy, Gait ataxia, Prominent antihelix, Hy...	OMIM:617807
Perry Syndrome	Akinesia, Depression, Bradykinesia, Weight loss, Inappropriate behavior, Disinhibition, Short ste...	OMIM:168605
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Perisylvian polymi...	OMIM:619121
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocephaly	OMIM:615433
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Microdontia	OMIM:617364
Pierpont Syndrome	Smooth philtrum, Brachycephaly, Prominent median palatal raphe, Thin vermilion border, Widely spa...	OMIM:602342
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia	ORPHA:71518
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Re...	OMIM:615838
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Dental crowding, Brachycephaly	OMIM:615031
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita...	OMIM:309548
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Impaired vibratory sensation, Intestinal pseudo-obstruction, Aganglionic meg...	OMIM:243180
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight	OMIM:614063
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum	OMIM:608027
Luscan-Lumish Syndrome	Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia	OMIM:616831
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
2Q32Q33 Microdeletion Syndrome	Dental crowding, Brachycephaly, Cleft palate, Oligodontia, Thin vermilion border, High palate, Na...	ORPHA:251019
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
German Syndrome	Brachycephaly, Orofacial cleft, Everted lower lip vermilion, High palate, Dolichocephaly, Open mo...	ORPHA:2077
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clon...	OMIM:617435
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Apnea, Episodic tac...	ORPHA:79264
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity	ORPHA:791
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab...	ORPHA:72
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb...	ORPHA:240094
Whistling Face Syndrome, Recessive Form	Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia, Midface retrusion	OMIM:277720
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic atrophy, Narrow pal...	ORPHA:313892
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Short philtrum, Dol...	OMIM:618672
Joubert Syndrome 7	Encephalocele, Central apnea, Ataxia, Brainstem dysplasia, Episodic tachypnea, Oculomotor apraxia...	OMIM:611560
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Thick vermilion border, Abnormal temper tantrums, Abnormal ...	ORPHA:530983
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Brachycephaly, Downturned corners of mouth, Long philt...	OMIM:615761
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner...	OMIM:616840
Intellectual Developmental Disorder, Autosomal Dominant 26	Deep philtrum, Brachycephaly, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth	OMIM:615834
Man1B1-Cdg	Truncal obesity, Broad-based gait, Polyphagia	ORPHA:397941
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palat...	ORPHA:1790
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to...	OMIM:606407
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Sensorineural ...	OMIM:618342
Muenke Syndrome	Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Coronal craniosynostosis, Midface...	OMIM:602849
Cerebrooculonasal Syndrome	Brachycephaly, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long ...	ORPHA:66625
Macroglossia	Macroglossia	OMIM:153630
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, High palate, Long philtrum, Midfac...	OMIM:615539
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth, High palate, Smooth philtrum	OMIM:300590
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy	OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Brachycephaly	OMIM:616083
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob...	ORPHA:261529
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity	ORPHA:3085
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Limb ataxia, Self-injurious ...	OMIM:617695
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Oculogyric...	ORPHA:97349
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity	ORPHA:3055
Grant Syndrome	Open bite, Frontal bossing, Brachycephaly, Abnormal palate morphology	ORPHA:2097
Pseudodiastrophic Dysplasia	Frontal bossing, Brachycephaly, Smooth philtrum, Midface retrusion	OMIM:264180
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:352530
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro...	ORPHA:289560
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion	OMIM:616708
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,...	OMIM:123450
Crouzon Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Narrow palate, Multiple suture craniosynostosis, Mi...	ORPHA:207
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal...	OMIM:617820
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Brachycephaly, Cleft palate, Oligodontia, High palate	OMIM:600325
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Open mouth, Short philtrum, Optic nerve hypoplasia	ORPHA:228384
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Brachyturricepha...	OMIM:218350
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Dental crowding	OMIM:619264
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Juvenile Huntington Disease	Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia	ORPHA:248111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Wide mouth, Thin upper lip vermilion, Brachycephaly, Smooth philtrum	OMIM:615419
Craniofrontonasal Dysplasia	Frontal bossing, Craniosynostosis, Abnormality of the dentition, Brachycephaly, Orofacial cleft, ...	ORPHA:1520
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ...	OMIM:617302
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, High palate, Skull asymmetr...	OMIM:601853
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy, Facial palsy, Dysphagia, Sensorineural hearing impairment	OMIM:158900
Lujan-Fryns Syndrome	Dental crowding, Abnormality of the dentition, Brachycephaly, High palate, Short philtrum	ORPHA:776
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Intellectual Developmental Disorder, X-Linked 108	Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder	OMIM:301024
Frontonasal Dysplasia 3	Brachycephaly, Cleft palate	OMIM:613456
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Turricephaly, Brachycephaly, Cleft palate	ORPHA:2145
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Nephronophthisis 15	Obesity	OMIM:614845
Even-Plus Syndrome	Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia	OMIM:616854
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa...	OMIM:614299
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b...	OMIM:618917
Cornelia De Lange Syndrome 5	Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Wid...	OMIM:300882
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Ataxia, Oculomotor apraxia, Hypertonia, Molar tooth s...	OMIM:612291
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los...	ORPHA:2198
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia	ORPHA:363400
Hypomandibular Faciocranial Dysostosis	Pursed lips, Coronal craniosynostosis, Aglossia	OMIM:241310
Idiopathic Achalasia	Weight loss	ORPHA:930
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Flat occiput, Dolichocephaly, Brachycephaly, Downturned corners of mout...	OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 46	Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation	OMIM:616116
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive	ORPHA:261483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Downturned corners of mouth, Self-injurious behavior, Low-set e...	OMIM:618718
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Brachycephaly, Smooth philtrum	OMIM:620240
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen...	OMIM:614450
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Apnea, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxi...	OMIM:617903
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Thin upper lip vermilion, Frontal bossing, Brachycephaly, Plagiocephaly, Short philtrum, Open mou...	OMIM:616801
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n...	ORPHA:3299
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Brainstem dysplasia, E...	OMIM:213300
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Abnormal palate morphology	ORPHA:93262
X-Linked Intellectual Disability, Wilson Type	Wide mouth, Thick vermilion border, Brachycephaly	ORPHA:85290
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Thick lower lip vermilion, Gingival overg...	OMIM:179613
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly	OMIM:618862
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Brachycephaly, Downturned ...	OMIM:618430
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost...	ORPHA:228390
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d...	ORPHA:398069
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Anal atresia	ORPHA:93950
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 7	Thin upper lip vermilion, Hyperactivity, Ataxia, Abnormal pinna morphology, Thick lower lip vermi...	OMIM:614104
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Neurogenic bladder, Optic nerve hypoplasia, Dysphagia, Pachygyria, Abnormal repetitive mannerisms	ORPHA:572013
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth	OMIM:618797
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment	ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms	OMIM:615282
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha...	OMIM:603116
Fetal Trimethadione Syndrome	High palate, Brachycephaly, Midface retrusion	ORPHA:1913
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mouth, Plagiocephaly, High palate,...	ORPHA:369891
Foxg1 Syndrome	Dystonia, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Hyperkineti...	ORPHA:561854
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Abnormality of dental eruption, Dental malocclusion, Brachycephaly, Downturned corners...	ORPHA:1327
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, T...	ORPHA:101085
Muenke Syndrome	Plagiocephaly, High, narrow palate, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Frontal bossing, Thick lower lip vermilion, Prominent median pa...	OMIM:300602
Hypoglossia With Situs Inversus	Microglossia, High palate, Hypodontia, Narrow mouth	OMIM:612776
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Joubert Syndrome 40	Molar tooth sign on MRI, Oculomotor apraxia, Optic nerve hypoplasia	OMIM:619582
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Bradykinesia, Agitation,...	ORPHA:411602
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly	OMIM:264470
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom...	ORPHA:220497
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Dysmetria, Cleft palate, Glosso...	OMIM:618356
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Depression	ORPHA:276630
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Midface retrusion, High palate, Narrow mouth, Brachyturricephaly, Dent...	OMIM:613849
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Dental malocclusion, Macrotia, Abnormal repe...	OMIM:615541
Crouzon Syndrome	Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid...	OMIM:123500
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Rett Syndrome	Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic ner...	ORPHA:778
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, Long philtrum	ORPHA:171839
Joubert Syndrome 25	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Hydrocephalus,...	ORPHA:2318
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py...	ORPHA:240071
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Joubert Syndrome 2	Encephalocele, Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, At...	OMIM:608091
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Cerebellar atrophy, Babinski sign, Spastic dysarthria, Difficulty walking, Dystoni...	ORPHA:280763
Huntington Disease-Like 2	Bradykinesia, Weight loss	OMIM:606438
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Acrofrontofacionasal Dysostosis	Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High palate, Mid...	ORPHA:1784
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Dolichocephaly, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion	OMIM:619721
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Bardet-Biedl Syndrome 7	Obesity	OMIM:615984
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Bardet-Biedl Syndrome 16	Obesity	OMIM:615993
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Ataxia, Facial palsy, Hearing impairment, Sensorineural hearing impairment, Dysph...	OMIM:211530
Perlman Syndrome	Hyperinsulinemia, Tall stature	ORPHA:2849
Kury-Isidor Syndrome	Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Lon...	OMIM:619762
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Female infertility	OMIM:619518
Xq28 (MECP2) duplication	Brachycephaly, Narrow mouth	DECIPHER:45
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:617562
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Brachycephaly, Macroglossia, Everte...	OMIM:610253
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Inability to walk, Simplified gyral pattern, Wide mouth, Widely spaced ...	OMIM:619877
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Frontal bossing, Midface retrusion, Cleft palate	ORPHA:440354
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Optic atrophy, A...	ORPHA:87
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, High, narrow palate, Brachycephaly, Wide mouth, Abnormal upper lip morphology, Abno...	ORPHA:2707
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach...	OMIM:157980
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil...	ORPHA:163649
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin...	ORPHA:2298
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Joubert Syndrome 20	Aggressive behavior, Inability to walk, Oculomotor apraxia, Respiratory insufficiency, Molar toot...	OMIM:614970
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Dysphagia...	ORPHA:251061
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Orofaciodigital Syndrome Xix	Frontal bossing, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, Carious teeth, Narro...	OMIM:620107
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Monosomy 18P	Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodont...	ORPHA:1598
Angelman Syndrome	Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth	OMIM:105830
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Smith-Magenis Syndrome	Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation...	OMIM:182290
Joubert Syndrome 36	Molar tooth sign on MRI, Open mouth, Sensorineural hearing impairment	OMIM:618763
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dysphagia, Dystonia, Spasticity	OMIM:304700
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykine...	ORPHA:225147
Trisomy 5P	Obesity	ORPHA:1742
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis...	ORPHA:3201
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Downturned corners of mouth, High...	OMIM:613174
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba...	OMIM:600795
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal spaced incisors, Hypoplasia of the pons, Prominent ear helix, Inability to walk, Large e...	ORPHA:411986
Biemond Syndrome Type 2	Obesity	ORPHA:141333
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Widely spaced teeth, Low-set ...	OMIM:619092
Igg4-Related Ophthalmic Disease	Sialadenitis, Colon cancer, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital...	ORPHA:449563
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Frontal bossing, Pierre-Robin sequence, Glossoptosis, High palate, Open...	OMIM:613604
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg...	OMIM:609136
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social int...	OMIM:156200
Chronic Hiccup	Weight loss	ORPHA:396
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Breathing dysregulation, Oculomot...	OMIM:610688
Distal Deletion 10Q	Thin upper lip vermilion, Ataxia, Aggressive behavior, Congenital sensorineural hearing impairmen...	ORPHA:96148
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Frontal bossing, Brachycephaly	OMIM:608688
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Babinski sign, D...	OMIM:612069
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe...	OMIM:609583
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia	OMIM:612716
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom...	ORPHA:220493
Bardet-Biedl Syndrome 4	Obesity	OMIM:615982
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Unilateral cleft lip, Brachycephaly	ORPHA:2511
Larsen-Like Syndrome	Frontal bossing, Dental malocclusion, Brachycephaly, Cleft palate	OMIM:608545
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Brachycephaly, High palate, Short philtrum	ORPHA:3306
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Parkinson Disease 17	Bradykinesia, Akinesia	OMIM:614203
Isaacs Syndrome	Weight loss	ORPHA:84142
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Morm Syndrome	Truncal obesity	ORPHA:75858
Optic Atrophy-Intellectual Disability Syndrome

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