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Gene: Bdnf MGI:88145

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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.

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
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
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
Intellectual Developmental Disorder, Autosomal Recessive 25
Delayed speech and language development, Anxiety OMIM:614346
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior, Impaired social interactions, Delayed speech and language ... ORPHA:329249
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
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 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
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
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... ORPHA:280397
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Obesity ORPHA:71529
Panic Disorder 1
Anxiety OMIM:167870
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... ORPHA:324575
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormality of taste sensation, Abnormal fifth cr... ORPHA:353253
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing OMIM:311895
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Agitati... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... ORPHA:71526
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Intellectual Developmental Disorder, X-Linked 63
Delayed speech and language development, Anxiety OMIM:300387
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Agitation, Hyperinsulinemi... ORPHA:276575
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Di... ORPHA:276556
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Pick Disease Of Brain
Diminished motivation, Emotional blunting, Echolalia, Apathy, Polyphagia, Language impairment, Di... OMIM:172700
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Leptin Receptor Deficiency
Aggressive behavior, Decreased response to growth hormone stimulation test, Emotional lability, D... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Hypoglycemia, Leucine-Induced
Hypoglycemia, Irritability, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Bardet-Biedl Syndrome 22
Hypogonadism, Delayed speech and language development, Large for gestational age, Polyphagia, Obe... OMIM:617119
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Aggressive behavior, Large for gestational age ORPHA:356996
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Insulinoma
Hyperinsulinemia, Anxiety, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Ne... ORPHA:97279
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Obesity, Glucose intolerance ORPHA:369873
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Delayed speech and language development, Obesity, Emotional lability, Absent speech OMIM:309585
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity OMIM:617885
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... ORPHA:276608
Huntington Disease
Aggressive behavior, Gait imbalance, Inability to walk, Weight loss, Suicidal ideation, Choking e... ORPHA:399
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Ataxia, Absent speech, Polyphagia, Obesity, Broad-based gait ORPHA:411515
Frontotemporal Dementia
Diminished motivation, Apathy, Polyphagia, Amyotrophic lateral sclerosis, Language impairment, Di... OMIM:600274
Adenylosuccinate Lyase Deficiency
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum ORPHA:46
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ... ORPHA:179494
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion OMIM:309545
Arnold-Chiari Malformation Type I
Gait ataxia, Functional abnormality of the inner ear, Somatic sensory dysfunction, Adult onset se... ORPHA:268882
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Delayed speech and language development, Polyphagia, Obesity, Self-mutilation OMIM:616521
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Steppage gait, V... OMIM:613641
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Marcus-Gunn Syndrome
Cleft palate, Abnormal ear morphology, Cleft lip, Abnormal fifth cranial nerve morphology ORPHA:91412
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Geniospasm 1
Anxiety OMIM:190100
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
6Q16 Microdeletion Syndrome
Delayed speech and language development, Obesity, Polyphagia, Broad-based gait ORPHA:171829
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Narcolepsy Type 1
Obesity ORPHA:2073
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Narrow mouth, High palate ORPHA:2528
Adiposis Dolorosa
Obesity, Depression, Anxiety OMIM:103200
Superficial Siderosis
Paresthesia, Dysdiadochokinesis, Progressive gait ataxia, Limb ataxia, Ataxia, Vertigo, Impaired ... ORPHA:247245
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Gómez-López-Hernández Syndrome
Brachycephaly, Thin vermilion border, Midface retrusion, Turricephaly ORPHA:1532
Huntington Disease-Like 2
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... OMIM:606438
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Akinesia, Dysdiadochokinesi... ORPHA:247234
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Bardet-Biedl Syndrome 9
Delayed speech and language development, Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Pol... OMIM:615986
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia ORPHA:177910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... OMIM:609734
Ravine Syndrome
Spasticity, Abnormal brainstem morphology, Abnormal auditory evoked potentials, Ataxia, Apnea, At... ORPHA:99852
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea OMIM:617442
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... OMIM:619565
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Schaaf-Yang Syndrome
Inability to walk, Hypogonadism, Delayed speech and language development, Absent speech, Impulsiv... OMIM:615547
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Segmental peripheral demyelination, Tongue atrophy, Decreased motor nerve co... OMIM:601596
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Non-Distal Trisomy 10Q
Everted lower lip vermilion, Brachycephaly, High palate, Frontal bossing ORPHA:1695
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly, Short philtrum, Downturned corners of mouth OMIM:601224
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, High palate, Short philtrum, Midface retrusion, Everted lower lip vermilion, Furro... ORPHA:1387
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Optic atrophy, Tongue atrophy, Gait disturbance, Compulsive behaviors, Impulsivity, Dysph... ORPHA:216873
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Tented upper lip vermilion, Long philtrum OMIM:619972
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Spasticity, Aspiration pneumonia, Tip-toe gait, Inability to walk, Generalize... ORPHA:216866
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Attention deficit hyperactivity disorder, Fasting hyperinsulinemia, Hyperi... ORPHA:35878
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Thin upper lip vermilion, Craniosy... ORPHA:314575
Clark-Baraitser Syndrome
Brachycephaly, High palate, Long philtrum, Wide mouth, Short philtrum, Dolichocephaly, Thin upper... OMIM:617752
Adult Krabbe Disease
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Clumsine... ORPHA:206448
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign,... OMIM:128100
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, High palate, Optic atrophy, Ataxia, Abnormal pinna morphology OMIM:300983
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, No social interaction, Suicidal ideation... ORPHA:96369
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Short philtrum, Optic atrophy OMIM:300928
Pulmonary Blastoma
Weight loss ORPHA:64741
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tuberculosis
Weight loss ORPHA:3389
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... OMIM:612310
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Neurotrophic Keratopathy
Hyperesthesia, Abnormal fifth cranial nerve morphology ORPHA:137596
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Anxiety, L... OMIM:613670
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... ORPHA:168782
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic parapares... OMIM:300894
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Aica-Ribosiduria
Brachycephaly, Thin upper lip vermilion, Wide mouth ORPHA:250977
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Downturned corners of mouth, Deep philtrum OMIM:618859
Spinocerebellar Ataxia Type 1
Chorea, Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Abno... ORPHA:98755
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Motor deteriorati... ORPHA:412066
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai... ORPHA:251282
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, High palate, Plagiocephaly, Short philtrum, Dolichocephaly, High, narrow palate OMIM:615433
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, ... OMIM:619422
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Potocki-Shaffer Syndrome
Brachycephaly, Downturned corners of mouth, Short philtrum, Parietal foramina ORPHA:52022
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... ORPHA:98807
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem... ORPHA:263455
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Neuromuscular dysphagia, Palilalia, Gait imbalance, Falls, Akinesia, Short stepped shuffling gait... ORPHA:240094
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... OMIM:300942
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Delayed speech and language development, Obesity, Anxiety OMIM:618725
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity, Delayed speech and language development ORPHA:300305
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum OMIM:618732
Luscan-Lumish Syndrome
Aggressive behavior, Shyness, Delayed speech and language development, Overgrowth, Polyphagia, An... OMIM:616831
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
2Q23.1 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Delayed speech and language development, Ataxia, Polyphagia ORPHA:228402
Renal Glucosuria
Glycosuria, Polyphagia, Polydipsia OMIM:233100
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Vertigo ORPHA:71518
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Thick upper lip vermilion, Patent ductus arteriosus, Deep philtrum, Widely spaced te... OMIM:619717
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Recurrent hand flapping, Hand tremor, Cerebellar atrophy, Atrophy/Degeneration affec... OMIM:617862
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... ORPHA:100973
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Mitochondrial Complex I Deficiency, Nuclear Type 28
Abnormal pyramidal sign, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Optic neuropat... OMIM:618249
9q subtelomeric deletion syndrome
Protruding tongue, Midface retrusion DECIPHER:52
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Unilambdoid synostosis, Broad phi... OMIM:618577
Joubert Syndrome 28
Oculomotor apraxia, Optic disc pallor, Molar tooth sign on MRI, Ataxia OMIM:617121
Wagro Syndrome
Aggressive behavior, Echolalia, Impaired social interactions, Agitation, Emotional lability, Poly... OMIM:612469
Cebalid Syndrome
Brachycephaly, High palate, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platy... OMIM:618774
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Hyperactivity, Broad-based gait, Optic atrophy OMIM:619470
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Respiratory failure, Gait disturbance, Ataxia, Babinski sign, Spastic tetraparesis, L... OMIM:615838
Fragile X Syndrome
Hyperactivity, Macrotia, Periventricular heterotopia, Abnormal head movements, Recurrent hand fla... OMIM:300624
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Craniosynostosis 2
Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ... OMIM:604757
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis ORPHA:382
Pierpont Syndrome
Brachycephaly, Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth... ORPHA:487825
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Gait ataxia, Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:243180
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Emotio... ORPHA:525731
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism ORPHA:791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... OMIM:262190
Huntington Disease-Like 1
Gait ataxia, Poor fine motor coordination, Abnormal posturing, Chorea, Clumsiness, Gait disturban... ORPHA:157941
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... ORPHA:98764
8Q12 Microduplication Syndrome
Everted lower lip vermilion, Brachycephaly, Narrow mouth, Long philtrum ORPHA:228399
Angelman Syndrome
Precocious puberty in females, Hyperactivity, Aggressive behavior, Self-injurious behavior, Inabi... ORPHA:72
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Ataxia, Abnormal repetitive mannerisms, Thick vermilion border ORPHA:530983
Pierpont Syndrome
Brachycephaly, Widely spaced teeth, Prominent median palatal raphe, Midface retrusion, Everted lo... OMIM:602342
Hartnup Disorder
Glossitis OMIM:234500
Congenital Myopathy 13
Brachycephaly, High palate, Midface retrusion, Downturned corners of mouth, Cleft palate OMIM:255995
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Wide mouth, Macroglossia, Frontal bossing, Everted lower lip vermil... OMIM:616789
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Microglossia ORPHA:141152
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... ORPHA:454887
Perry Syndrome
Weight loss, Akinesia, Suicidal ideation, Apathy, Short stepped shuffling gait, Anxiety, Disinhib... OMIM:168605
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Pierre-Robin sequence, Short philtrum, Midface retrusion, Thin upper lip vermilion... OMIM:619504
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398079
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Intellectual Developmental Disorder, Autosomal Recessive 46
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Large for ... OMIM:616116
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Dental crowding ORPHA:320385
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Lar... ORPHA:552
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... ORPHA:98793
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Halothane Hepatitis
Obesity OMIM:234350
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Aspiration pneumonia, Episodic tachypnea, Myoclonic spasms, Clumsin... ORPHA:79264
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, High palate, Plagiocephaly, Cleft palate, Tooth malposition OMIM:618603
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Hyperinsulinemia, Delayed speech and language development, Insulin re... ORPHA:363400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... ORPHA:177904
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... ORPHA:391411
Joubert Syndrome 7
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... OMIM:611560
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... ORPHA:177901
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, High palate, Long philtrum, Downturned corners of mouth, High, narrow palate OMIM:608027
Man1B1-Cdg
Polyphagia, Broad-based gait, Truncal obesity ORPHA:397941
Deafness-Craniofacial Syndrome
Bifid tongue, Short lingual frenulum, Short philtrum, Frontal bossing, Abnormal palate morphology... ORPHA:3241
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing OMIM:617364
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Abnormal autonomic nervous... OMIM:616840
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Microglossia, ... OMIM:614669
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... OMIM:606407
Atypical Rett Syndrome
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Episodic tachypnea, Stereotypical han... ORPHA:3095
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly, Dental crowding OMIM:615031
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism ORPHA:3085
German Syndrome
Brachycephaly, High palate, Midface retrusion, Dolichocephaly, Everted lower lip vermilion, Open ... ORPHA:2077
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Akinesia, Resting tremor, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... OMIM:619911
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, High palate, Thick lower lip vermilion, Frontal bossing, Tented upper lip vermilion OMIM:615828
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Dolichocephaly, Downturned corne... OMIM:618672
Hemifacial Atrophy, Progressive
Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Microtia, Tongue atrophy, Ataxia... OMIM:141300
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Cleft palate, Long philtrum, Glossoptosis ORPHA:166100
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Deep philtrum, Wide mouth, Short philtrum, Narrow mouth, Thick vermilion border OMIM:615834
Central Precocious Puberty
Overgrowth, Obesity, Increased body weight ORPHA:759
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Abnormal repetitive mannerisms, A... ORPHA:313892
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Spinocerebellar Ataxia 21
Gait ataxia, Akinesia, Postural tremor, Parkinsonism, Abnormality of extrapyramidal motor functio... OMIM:607454
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Smooth philt... OMIM:615761
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking, Long ... OMIM:309548
Mehmo Syndrome
Gait ataxia, Aggressive behavior, Decreased response to growth hormone stimulation test, Inabilit... OMIM:300148
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Pachygyria, Dysphagia ORPHA:572013
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Bulimia, Dela... ORPHA:398073
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Catel-Manzke Syndrome
Cleft palate, Oral synechia, Glossoptosis ORPHA:1388
2Q32Q33 Microdeletion Syndrome
Brachycephaly, High palate, Long philtrum, Oligodontia, Dental crowding, Narrow mouth, Thin vermi... ORPHA:251019
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Muenke Syndrome
Brachycephaly, Dental malocclusion, High palate, Plagiocephaly, Coronal craniosynostosis, Midface... OMIM:602849
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, High palate, Long philtrum, Midface retrusion, Frontal bossing, Narrow mouth, Dent... OMIM:615539
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... ORPHA:99
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Cornelia De Lange Syndrome 2
Brachycephaly, High palate, Thin upper lip vermilion, Downturned corners of mouth, Smooth philtrum OMIM:300590
5Q14.3 Microdeletion Syndrome
Open mouth, Short philtrum, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Cerebrooculonasal Syndrome
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxi... ORPHA:66625
Multiple Carboxylase Deficiency
Optic atrophy, Respiratory distress, Ataxia, Spastic paraparesis, Tachypnea ORPHA:148
Juvenile Huntington Disease
Gait ataxia, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait, Bradykinesia ORPHA:248111
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Delayed speech and language development, Attention deficit hyperactivity disorder, Overweight OMIM:620065
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Growth delay, Optic atrophy OMIM:274270
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Whistling Face Syndrome, Recessive Form
High palate, Long philtrum, Midface retrusion, Narrow mouth, Microglossia, Whistling appearance OMIM:277720
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, In... OMIM:614450
Nephronophthisis 15
Obesity OMIM:614845
Joubert Syndrome 8
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Hypertonia, Occipital encephalocele, Optic d... OMIM:612291
Intellectual Developmental Disorder With Autism And Macrocephaly
Pronoun reversal, Echolalia, Delayed speech and language development, Overweight, Tall stature, A... OMIM:615032
Optic Atrophy 11
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial dipl... OMIM:617302
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor functio... OMIM:614299
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Spinocerebellar Ataxia Type 21
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... ORPHA:98773
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly, Thin upper lip vermilion, Downturned corners of mouth ORPHA:352530
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... ORPHA:66624
Pseudodiastrophic Dysplasia
Brachycephaly, Midface retrusion, Smooth philtrum, Frontal bossing OMIM:264180
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Aplasia/Hypoplasia of the tongue, Bifid uvula, Midface retrusion, Narrow mouth, Tr... ORPHA:1790
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... ORPHA:2198
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Grant Syndrome
Brachycephaly, Abnormal palate morphology, Open bite, Frontal bossing ORPHA:2097
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Spastic dysarthria, Abnormal repetitive mannerisms, B... ORPHA:280763
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Brachyturricephaly, Pyloric stenosis, Midface retrusion, Frontal bossing, Abnormal... OMIM:218350
Idiopathic Achalasia
Weight loss ORPHA:930
Kufor-Rakeb Syndrome
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... OMIM:606693
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Crouzon Syndrome
Brachycephaly, Narrow palate, Turricephaly, Midface retrusion, Frontal bossing, Multiple suture c... ORPHA:207
Chromosome 22Q13 Duplication Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia, Emotional lability OMIM:615538
Episodic Ataxia Type 4
Abnormal head movements, Ataxia, Vertigo ORPHA:79136
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398069
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, High palate, Oligodontia, Frontal bossing, Cleft palate OMIM:600325
Postencephalitic Parkinsonism
Tremor by anatomical site, Abnormal substantia nigra morphology, Abnormal pyramidal sign, Akinesi... ORPHA:97349
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Craniosynostosis 6
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Bico... OMIM:616602
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Craniofrontonasal Dysplasia
Brachycephaly, High palate, Plagiocephaly, Frontal bossing, Orofacial cleft, Craniosynostosis, Ab... ORPHA:1520
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, impulsive or vi... ORPHA:3077
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Sensorineural hearing impairment, Unilateral vestibular schwannoma, Amelogenes... OMIM:603641
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Skull asymmetry, High palate, Turricephaly, Midface retrusion, Smooth philtrum, Th... OMIM:601853
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Thin upper lip vermilion, Wide mouth, Smooth philtrum OMIM:615419
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Lujan-Fryns Syndrome
Brachycephaly, High palate, Short philtrum, Dental crowding, Abnormality of the dentition ORPHA:776
Foxg1 Syndrome
Spasticity, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathetosis, Abnormal ... ORPHA:561854
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Cleft palate, Craniosynostosis, Turricephaly ORPHA:2145
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, High palate, Abnormal tongue physiology, Wide mouth, Recurrent hand flapping, Gait dist... ORPHA:544254
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, High palate, Long philtrum, Dolichocephaly, Anal atresia, Thin upper lip vermilion... OMIM:613792
Cornelia De Lange Syndrome 5
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Downturned corners of mouth, Thin... OMIM:300882
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Gait ataxia, Cerebellar vermis atrophy, Abnormal autonomic nervous system physiology, Limb ataxia... OMIM:614575
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Recombinant Chromosome 8 Syndrome
Brachycephaly, Thick lower lip vermilion, Midface retrusion, Thin upper lip vermilion, Downturned... OMIM:179613
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, Inability to walk, Stereotypical hand wringing, Hyperkinetic movements, Myocl... OMIM:614254
Desanto-Shinawi Syndrome
Brachycephaly, Thin upper lip vermilion, Downturned corners of mouth, Midface retrusion OMIM:616708
Even-Plus Syndrome
Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia OMIM:616854
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus,... ORPHA:220497
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Cleft palate, Cleft upper lip, Bifid uvula OMIM:300958
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly, Wide mouth OMIM:616083
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth p... OMIM:616801
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Brachycephaly, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, ... ORPHA:228390
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Joubert Syndrome With Oculorenal Defect
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Tachypnea, Ataxia, ... ORPHA:2318
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Abnormal palate morphology, Turricephaly, Frontal bossing ORPHA:93262
Joubert Syndrome 25
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:616781
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Short philtrum, Abnormal repetitive mannerisms, Co... ORPHA:352490
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Dystonia, Bruxism OMIM:619150
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology, Recurrent hand flapping, Gait disturbance, Apnea, D... OMIM:617903
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Midface retrusion, Frontal bossing, Thin upper lip vermilion, Downt... OMIM:618430
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Dental malocclusion, High palate, Midface retrusion, Abnormality of dental eruptio... ORPHA:1327
Tetanus
Rigidity, Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder d... ORPHA:3299
Rett Syndrome
Inability to walk, Stereotypical hand wringing, Abnormal autonomic nervous system physiology, Lim... ORPHA:778
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Anal atresia ORPHA:93950
Joubert Syndrome 2
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... OMIM:608091
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia ORPHA:3233
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Sensorineural hearing impairment, Tongue atrophy, Facial palsy OMIM:158900
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Occipital encephalocele OMIM:617562
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Cdags Syndrome
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Midface re... OMIM:603116
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment, Ataxia OMIM:271250
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Short philtrum, Abnormal repetitive mannerisms, Large earlobe, Everted lower l... ORPHA:411986
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Thin upper lip vermilion, High palate, Plagiocephaly OMIM:618862
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Fasting... ORPHA:2298
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Blepharospasm, Bradykinesia, Abnormal pyramidal sign, Optic atrophy, Akinesia, Parkin... OMIM:234200
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Self... OMIM:176270
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, High palate, Thick lower lip vermilion, Hypodont... OMIM:618342
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Repetitive compulsive behavior, Optic nerve hypoplasia, Compulsive behaviors, Atte... ORPHA:401777
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Wide mouth, Thick vermilion border ORPHA:85290
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Failure to thrive, Female infertility OMIM:619518
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Midface retrusion, Ma... ORPHA:369891
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Fetal Trimethadione Syndrome
Brachycephaly, Midface retrusion, High palate ORPHA:1913
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... ORPHA:280219
Muenke Syndrome
Brachycephaly, High, narrow palate, Plagiocephaly, Coronal craniosynostosis ORPHA:53271
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Long philtrum, Thin vermilion border, Craniosynostosis ORPHA:171839
Joubert Syndrome 36
Open mouth, Sensorineural hearing impairment, Molar tooth sign on MRI OMIM:618763
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia, Weight loss, Apathy, Agitation, Impulsivity, Dysphagia, Low frustration... ORPHA:411602
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Trisomy 5P
Obesity ORPHA:1742
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Brachyturricephaly, Delayed eruption of teeth, Midface re... OMIM:613849
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Crouzon Syndrome
Brachycephaly, Sagittal craniosynostosis, High palate, Coronal craniosynostosis, Midface retrusio... OMIM:123500
Igg4-Related Ophthalmic Disease
Colon cancer, Abnormality of infra-orbital nerve, Sialadenitis, Abnormal fifth cranial nerve morp... ORPHA:449563
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,... ORPHA:1501
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Biemond Syndrome Type 2
Obesity ORPHA:141333
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Wide mouth, Protruding tongue, Flat occiput, Gingival overgrowth OMIM:618797
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Dolichocephaly, Frontal bossing OMIM:619721
Spinocerebellar Ataxia Type 13
Gait ataxia, Impaired distal vibration sensation, Optic atrophy, Titubation, Clumsiness, Torticol... ORPHA:98768
Down Syndrome
Brachycephaly, Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macr... ORPHA:870
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Oculomotor apraxia, Ataxia, Thic... OMIM:609583
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Wide mouth, Microdontia, Abnormal lip morphology, Short philtrum, Abnormal upper l... ORPHA:2707
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Acrofrontofacionasal Dysostosis
Brachycephaly, Non-midline cleft lip, High palate, Midface retrusion, Everted lower lip vermilion... ORPHA:1784
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus,... ORPHA:220493
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Brown-Vialetto-Van Laere Syndrome 1
Sensorineural hearing impairment, Tongue atrophy, Ataxia, Cranial nerve motor loss, Dysphagia, To... OMIM:211530
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, High palate, Long philtrum, Frontal bossing, Downturned corners of mouth, Cleft pa... ORPHA:163649
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Peripheral demyelination, Abnormal autonomic nervous system phy... OMIM:609136
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Joubert Syndrome 33
Apnea, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617767
Momo Syndrome
Brachycephaly, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... OMIM:157980
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Sensorineural hearing impairment, Spastic ataxia, Inability to walk,... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 75
Temporal optic disc pallor, Abnormal pyramidal sign, Spasticity, Titubation, Spastic paraplegia, ... ORPHA:459056
Clark-Baraitser syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300602
Kury-Isidor Syndrome
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Frontal bossing, Triangular mouth... OMIM:619762
Chromosome 5P13 Duplication Syndrome
Brachycephaly, High palate, Turricephaly, Short philtrum, Frontal bossing, Downturned corners of ... OMIM:613174
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Ventilator dependence with inability to wean, Diaphragmatic ... OMIM:604320
Chronic Hiccup
Weight loss ORPHA:396
Monosomy 18P
Brachycephaly, Hypodontia, Short philtrum, Downturned corners of mouth, Carious teeth, Cleft pala... ORPHA:1598
Isaacs Syndrome
Weight loss ORPHA:84142
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Primary hypothyroidism ORPHA:95427
Joubert Syndrome
Encephalocele, Episodic tachypnea, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Gait... ORPHA:475
Joubert Syndrome 1
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated... OMIM:213300
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Cntnap2-Related Developmental And Epileptic Encephalopathy
Reduced eye contact, Aggressive behavior, Abnormality of neuronal migration, Delayed speech and l... ORPHA:163681
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Cochlear degeneratio... ORPHA:95433
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Kleefstra Syndrome 1
Brachycephaly, Natal tooth, Midface retrusion, Macroglossia, Everted lower lip vermilion, Protrud... OMIM:610253
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Large for gestational age, Optic nerve hypoplasia, Thin... ORPHA:137634
Manganese Poisoning
Aggressive behavior, Akinesia, Gait disturbance, Emotional lability, Irritability, Bradykinesia ORPHA:306682
Branchiootorenal Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Incomplete partitio... OMIM:113650
Galactokinase Deficiency
Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hypergonadotropic h... ORPHA:79237
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Joubert Syndrome 30
Molar tooth sign on MRI, Apnea, Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker m... OMIM:617622
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremo... OMIM:617435
Xq28 (MECP2) duplication
Brachycephaly, Narrow mouth DECIPHER:45
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Combined Oxidative Phosphorylation Deficiency 54
Sensorineural hearing impairment, Optic disc pallor, Absence of acoustic reflex, Hypoesthesia, Th... OMIM:619737
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Ataxia, Polyphagia, A... OMIM:156200
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... OMIM:604367
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction, A... ORPHA:231169
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Motor axonal neuropathy, Truncal ataxia, Progressive gait ataxia, Limb a... ORPHA:247815
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput, Unilateral cleft lip ORPHA:2511
Joubert Syndrome 3
Neonatal breathing dysregulation, Molar tooth sign on MRI, Elongated superior cerebellar peduncle... OMIM:608629
Angelman Syndrome
Brachycephaly, Wide mouth, Widely spaced teeth, Macroglossia, Protruding tongue, Flat occiput OMIM:105830
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Aglossia, Pursed lips OMIM:241310
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Decreased nerve conduction velocity, Truncal obesity ORPHA:2928
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Flat occiput, Bilateral cleft lip and palate ORPHA:2001
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Optic atrophy, ... OMIM:614424
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... ORPHA:101085
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban... ORPHA:225147
Smith-Magenis Syndrome
Brachycephaly, Everted upper lip vermilion, Velopharyngeal insufficiency, Midface retrusion, Orof... OMIM:182290
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Long philtrum, Wide mouth, Frontal bossing OMIM:608776
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Lipoid Proteinosis
High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo... ORPHA:530
Mulibrey Nanism
Cachexia ORPHA:2576
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, Submucous cleft hard palate, Abnormality of the sense of smell, High, narrow palate, ... ORPHA:3201
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Mandibular con... OMIM:602483
Morm Syndrome
Truncal obesity ORPHA:75858
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Anxiety, Choreoathetosis, Irritability, Re... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Anxiety, Irritability, Reduced circulating... ORPHA:79444
Antley-Bixler Syndrome
Brachycephaly, Long philtrum, Turricephaly, Frontal bossing, Narrow mouth, Cleft palate, Craniosy... ORPHA:83
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Pierre-Robin sequence, High palate, Frontal bossing, Thin upper lip vermilion, Open mouth, Glosso... OMIM:613604
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Dysostosis, Stanescu Type
Brachycephaly, Midface retrusion, Macroglossia, Abnormal palate morphology, Tooth agenesis, Cario... ORPHA:1798
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Obesity, Anxiety OMIM:301013
Atkin-Flaitz Syndrome
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... OMIM:300431
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Aggressive behavior, Emotional lability, Broad-based gait, Absent speech, Polyphagia, Restlessnes... ORPHA:251028
Japanese Encephalitis
Abnormal substantia nigra morphology, Respiratory paralysis, Irregular respiration, Choreoathetos... ORPHA:79139
Central Diabetes Insipidus
Failure to thrive, Lethargy, Weight loss ORPHA:178029
Larsen-Like Syndrome
Brachycephaly, Cleft palate, Dental malocclusion, Frontal bossing OMIM:608545
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Cleft palate, Midface retrusion, Glossoptosis, Frontal bossing ORPHA:440354
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Dystonia OMIM:304700
Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:98293
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Del... OMIM:615363
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Recurrent hand flapping, Attention deficit hyperactivity disorder, Low-set ears, Ope... OMIM:620021
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Gait imbalance, Falls, Akinesia, Abnormal pyramidal sign, Parkinsonism, Parkinsoni... ORPHA:240071
Charge Syndrome
Optic atrophy, Delayed eruption of teeth, Abnormal soft palate morphology, Abnormal cranial nerve... ORPHA:138
Aica-Ribosuria Due To Atic Deficiency
Brachycephaly, Thin upper lip vermilion, Wide mouth, Frontal bossing OMIM:608688
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Brachyturricephaly, Frontal bossing, Cleft palate, High, narrow palate OMIM:607597