Not currently registered for phenotyping at IMPC

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

Gene Summary

brain derived neurotrophic factor

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Wagr Syndrome
Obesity ORPHA:893
Ondine 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 Similarity of
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Increased waist to hip ratio, Obesity OMIM:601665
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, Aggressive behavior, Polyphagia, Hyperinsulinemia, No social intera... ORPHA:329249
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Intellectual Developmental Disorder, X-Linked 63
Microcephaly, Anxiety OMIM:300387
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Tall stature, Obesity OMIM:618406
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Burning Mouth Syndrome
Tongue pain, Dysesthesia, Impaired temperature sensation, Abnormal fifth cranial nerve morphology... ORPHA:353253
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Vestibular Schwannoma, Distal sensory impairment OMIM:613641
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Lethargy, Hype... ORPHA:324575
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Frontal bossing, Cleft palate OMIM:311895
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Lethargy, Hyperinsu... ORPHA:276580
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Polyphagia, Hyperinsulinemia, Pituitary hypothyro... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decrea... OMIM:614963
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Prominent ... ORPHA:46
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss, Caudate atrophy, Cerebral cortical atrophy, Abnormal cer... ORPHA:98934
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Polyphagia, Obesity OMIM:613886
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Neoplasm of the adrenal gl... ORPHA:97279
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia, Ataxia OMIM:240800
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Gait ataxia, Vertigo, Brain stem compression, Dyses... ORPHA:268882
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Decreased response to growth hormone stimu... OMIM:609734
Summitt Syndrome
Obesity OMIM:272350
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Irritability, Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Mental Retardation, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Brachycephaly, Thick upper lip vermilion OMIM:309545
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Frontotemporal cerebral atrophy, Motor deteri... ORPHA:412066
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Huntington Disease
Inability to walk, Choking episodes, Dystonia, Decreased body mass index, Polyphagia, Aggressive ... ORPHA:399
Childhood-Onset Benign Chorea With Striatal Involvement
Striatal T2 hyperintensity, Abnormal corpus striatum morphology, Anxiety ORPHA:494541
Superficial Siderosis
Dysdiadochokinesis, Impaired pain sensation, Vertigo, Frequent falls, Paresthesia, Bilateral sens... ORPHA:247245
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Polyphagia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Frontotemporal Dementia
Polyphagia, Apathy, Diminished motivation, Amyotrophic lateral sclerosis, Irritability OMIM:600274
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Jerky head mov... ORPHA:98807
Pick Disease Of Brain
Emotional blunting, Polyphagia, Apathy, Diminished motivation, Irritability OMIM:172700
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, High palate, Optic atrophy, Spasticity OMIM:300983
Mental Retardation, Autosomal Dominant 29
Narrow palate, Dental crowding, Thin upper lip vermilion, Brachycephaly, High palate OMIM:616078
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Spasticity, Oromandibular ... ORPHA:216873
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Optic atrophy, Spasticity OMIM:614322
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Brachycephaly, Trigonocephaly, Prominent metopic ridge OMIM:275595
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Gait ataxia, Functional intestinal obstruction, Impaired vibratory sensation, Intestinal malrotat... OMIM:243180
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... OMIM:618876
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Geniospasm 1
Anxiety OMIM:190100
Narcolepsy Type 1
Obesity ORPHA:2073
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Narrow mouth ORPHA:2528
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration affecting the brainstem OMIM:617862
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Gómez-López-Hernández Syndrome
Midface retrusion, Thin vermilion border, Brachycephaly, Turricephaly ORPHA:1532
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Adiposis Dolorosa
Obesity, Anxiety, Depression OMIM:103200
Ravine Syndrome
Apnea, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Degene... ORPHA:99852
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Downturned corners of mouth, Parietal foramina, Brachycephaly, Tur... OMIM:601224
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Attention deficit hyperactivity disorder, Abnormal posturing, Gait disturbance... ORPHA:216866
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Impaired t... ORPHA:206448
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Broad-based gait ORPHA:171829
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Early-Onset Schizophrenia
Shyness, Polyphagia, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotiona... ORPHA:96369
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Polyphagia, Diabetes mellitus OMIM:222100
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, Frontotemporal ... ORPHA:100070
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Juvenile Huntington Disease
Dystonia, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Weight loss, Bradykines... ORPHA:248111
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Hydrocephalus, Ataxia OMIM:618709
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Non-Distal Trisomy 10Q
High palate, Everted lower lip vermilion, Brachycephaly, Frontal bossing ORPHA:1695
N-Acetylaspartate Deficiency
Stereotypy, Truncal ataxia, Decreased body weight OMIM:614063
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Hyperac... OMIM:617302
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Hartnup Disorder
Glossitis OMIM:234500
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Thin upper lip vermilion, Brachycephaly, High palate, Pyloric ... ORPHA:314575
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Chorea, Slurre... ORPHA:98755
Huntington Disease-Like 2
Dementia, Depression, Apathy, Weight loss, Irritability, Anxiety OMIM:606438
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Midface retrusion, Everted lower lip vermilion, Furrowed tongu... ORPHA:1387
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Autism, Susceptibility To, 18
Overweight, Anxiety, Tall stature OMIM:615032
Thin upper lip vermilion, Brachycephaly, Wide mouth ORPHA:250977
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Tall stature ORPHA:79329
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Stereotypy OMIM:606053
Orofaciodigital Syndrome V
Frontal bossing, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft... OMIM:174300
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Weight loss ORPHA:3389
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
9q subtelomeric deletion syndrome
Midface retrusion, Protruding tongue DECIPHER:52
Neurotrophic Keratopathy
Hyperesthesia, Abnormal fifth cranial nerve morphology ORPHA:137596
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypertonia, Spastic tetraparesis, Hemiparesis, Abnormality o... OMIM:604317
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis OMIM:241310
Hyperglycemia, Hyperinsulinemia OMIM:616214
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deep philtrum, Brachycephaly, Downturned corners of mouth OMIM:618859
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Hypertonia, Intention tremor, Ataxia, Gl... OMIM:618356
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Chromosome 3Q29 Deletion Syndrome
Short philtrum, Gait ataxia, Macrotia, Thin upper lip vermilion, Low-set ears, Posteriorly rotate... OMIM:609425
Chorea, Benign Hereditary
Anxiety OMIM:118700
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Huntington Disease-Like 1
Basal ganglia gliosis, Aggressive behavior, Dementia, Depression, Anxiety OMIM:603218
Joubert Syndrome 28
Ataxia, Molar tooth sign on MRI, Oculomotor apraxia, Optic disc pallor OMIM:617121
Pulmonary Blastoma
Weight loss ORPHA:64741
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 26
Short philtrum, Narrow mouth, Wide mouth, Thick vermilion border, Brachycephaly OMIM:615834
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Polyphagia, Goiter... ORPHA:525731
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment OMIM:615483
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Abnormal cerebral white matter morphology, Ataxia, Weight loss, Cachexia OMIM:613662
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Potocki-Shaffer Syndrome
Short philtrum, Brachycephaly, Parietal foramina, Downturned corners of mouth ORPHA:52022
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Smooth philtrum, Ataxia, Thin upper lip verm... OMIM:618218
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Slurred speech, Poor fine mo... ORPHA:157941
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Dolichocephaly, Plagiocephaly, Brachycephaly, High palate, High, narrow palate OMIM:615433
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Schaaf-Yang Syndrome
Inability to walk, Polyphagia, Failure to thrive in infancy, Hypogonadism, Obesity OMIM:615547
Myopathy, Congenital, Bailey-Bloch
Downturned corners of mouth, Midface retrusion, Brachycephaly, Cleft palate, High palate OMIM:255995
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Failure to thrive, Spasticity OMIM:617393
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Tented upper lip vermilion, ... OMIM:617807
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Cebalid Syndrome
Midface retrusion, Platystencephaly, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, T... OMIM:618774
Rafiq Syndrome
Aggressive behavior, Obesity OMIM:614202
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Fraxe Intellectual Disability
Clumsiness, Thick vermilion border, Prominent ear helix, Recurrent hand flapping, Hyperactivity, ... ORPHA:100973
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Mental Retardation, Autosomal Dominant 33
Short stature, Hyperactivity OMIM:616311
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Polyphagia, Overgrowth, Anxiety, Obesity OMIM:616831
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypogly... ORPHA:263455
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Perisylvian polymicrogyria, Truncal ataxia, Drooling, Downturned c... OMIM:619121
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Thin upper l... ORPHA:487825
Episodic Ataxia Type 4
Incoordination, Vertigo, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Sudden episodic a... ORPHA:3095
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Immunodeficiency 61
Obesity OMIM:300310
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Peripheral demyelination, Peripheral h... OMIM:609136
Lamb-Shaffer Syndrome
Thick vermilion border, Ataxia, Stereotypy, Upper motor neuron dysfunction, Hyperactivity, Optic ... ORPHA:530983
Grant Syndrome
Open bite, Wormian bones, Large fontanelles, Frontal bossing, Abnormal palate morphology, Brachyc... ORPHA:2097
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Skin-picking, Polyphagia, Premature pubarche, Hypogonadotropic hypogonadism, Premature ... ORPHA:398079
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Pontocerebellar Hypoplasia, Type 3
Long philtrum, Downturned corners of mouth, Brachycephaly, High palate, High, narrow palate OMIM:608027
Hyperostosis Frontalis Interna
Obesity OMIM:144800
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Ataxia, Hyperactivity ORPHA:228402
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Postnatal growth retardation, Short stature, Progressive hearing impairment OMIM:616113
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity OMIM:183050
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Brachycephaly ORPHA:91133
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Multiple Carboxylase Deficiency
Lethargy, Spastic paraparesis, Respiratory distress, Ataxia, Tachypnea, Optic atrophy ORPHA:148
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Attention deficit hyperacti... ORPHA:52368
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Brachycephaly, Broad phi... OMIM:618577
Pierpont Syndrome
Thin vermilion border, Midface retrusion, Everted lower lip vermilion, Long upper lip, Smooth phi... OMIM:602342
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Frontal bossing, Everted lower lip vermilion, Wide mouth, Plagiocephaly... OMIM:616789
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Ataxia, Short mandibular rami, Dental malocclusion, M... OMIM:141300
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
8Q12 Microduplication Syndrome
Long philtrum, Everted lower lip vermilion, Brachycephaly, Narrow mouth ORPHA:228399
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Deafness-Craniofacial Syndrome
Short philtrum, Frontal bossing, Abnormal palate morphology, Abnormality of the dentition, Short ... ORPHA:3241
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Sensorineural hearing impairment, Short stature, Hyperactivity OMIM:608747
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Halothane Hepatitis
Obesity OMIM:234350
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Choreoathetosis, Dystonia, Spastic paraparesis, Head t... OMIM:608804
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk... ORPHA:79264
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
German Syndrome
Open mouth, Midface retrusion, Everted lower lip vermilion, Oral cleft, Brachycephaly, High palat... ORPHA:2077
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Obesity OMIM:613670
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Dental crowding ORPHA:320385
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98754
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Ataxia, Ankle clonus, Facial palsy, Vocal cord paralysis, Sensorineural ... OMIM:211530
Angelman Syndrome
Inability to walk, Polyphagia, Aggressive behavior, Dysphagia, Poor eye contact, Self-injurious b... ORPHA:72
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Oculomotor apraxia, Central... OMIM:611560
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98793
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing OMIM:608688
Truncal obesity, Polyphagia, Broad-based gait ORPHA:397941
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short philtrum, Dystonia, Drooling, Difficulty walking, Spasticity, Wide mouth, Waddling gait, St... ORPHA:280763
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177904
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Cough, Abnormal autonomic ... OMIM:614575
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177901
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Narrow mouth, Frontal bossing, Dental crowding, Midface retrusion, Brachycephaly, ... OMIM:615539
Mental Retardation, Autosomal Dominant 23
Long philtrum, Drooling, Downturned corners of mouth, Dental crowding, Smooth philtrum, Thin uppe... OMIM:615761
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Obesity OMIM:618725
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Abnormal cerebel... ORPHA:280234
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibrator... ORPHA:101085
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Plagiocephaly, Brachycephaly, Cleft palate, High palate OMIM:618603
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly, Dental crowding OMIM:615031
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Spastic paraparesis, Hand tremor, Gait disturbance, Bradykinesia, Respiratory insuffici... ORPHA:289560
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Stereotypy, Exaggerated median tongue furrow, Optic atrophy, Atte... ORPHA:313892
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Low-set ea... OMIM:619092
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:3085
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
2Q32Q33 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Oligodontia, Narrow mouth, Dental crowding, Brachycephaly, ... ORPHA:251019
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Stereotypy, Macrotia OMIM:615541
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Wide anterior fontanel, Midface retrusion... OMIM:601853
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Syngap1-Related Developmental And Epileptic Encephalopathy
Thin vermilion border, Abnormal tongue physiology, Tremor, Narrow mouth, Macrotia, Anteverted ear... ORPHA:544254
Mehmo Syndrome
Inability to walk, Gait ataxia, Male hypogonadism, Aggressive behavior, Difficulty walking, Decre... OMIM:300148
Immunodeficiency 8
Hyperactivity OMIM:615401
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Drooling, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Vertigo, Paresthesia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemi... ORPHA:79279
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Ataxia, Dysmetria, Intention tremor, Babinski sign, Optic atrophy OMIM:618688
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly OMIM:612247
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Abcd Syndrome
Large for gestational age, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic m... OMIM:600501
Muenke Syndrome
Midface retrusion, Plagiocephaly, Brachycephaly, Coronal craniosynostosis, High palate, Dental ma... OMIM:602849
Hsd10 Disease
Tremor, Gait disturbance, Ataxia, Postnatal growth retardation, Hearing impairment, Optic atrophy... ORPHA:391417
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ataxia, Hyperactivity OMIM:613402
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, ... OMIM:601165
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Midface retrusion, Microglossia, High palate, Whistling appearance OMIM:277720
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal ... OMIM:603116
Prader-Willi-Like Syndrome
Skin-picking, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonad... ORPHA:398073
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Brachycephaly, Dol... OMIM:618672
Cerebrooculonasal Syndrome
Long philtrum, Solitary median maxillary central incisor, U-Shaped upper lip vermilion, Brachycep... ORPHA:66625
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Difficulty walking, Hyper... OMIM:123450
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxi... OMIM:213300
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Thin vermilion border, Downturned corners of mouth, Flat occiput, Trigonocephaly, ... OMIM:613792
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Cornelia De Lange Syndrome 2
Downturned corners of mouth, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, High palate OMIM:300590
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Periventricular heterotopia, Macrotia OMIM:300624
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Frontal bossing, Midface retrusion, Brachycephaly, Brachyturriceph... OMIM:218350
Prader-Willi Syndrome
Polyphagia, Hyperinsulinemia, Self-injurious behavior, Decreased response to growth hormone stimu... OMIM:176270
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Sens... ORPHA:300570
5Q14.3 Microdeletion Syndrome
Stereotypy, Short philtrum, Optic nerve hypoplasia, Open mouth ORPHA:228384
Pseudodiastrophic Dysplasia
Midface retrusion, Brachycephaly, Smooth philtrum, Frontal bossing OMIM:264180
Crouzon Disease
Narrow palate, Frontal bossing, Midface retrusion, Brachycephaly, Multiple suture craniosynostosi... ORPHA:207
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Narrow mouth, Hypertonia, Low-set ears, Stereotypy, Hyperactivity, Repetitive com... ORPHA:352490
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ataxia, Obesity OMIM:614947
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Drooling, Downturned corners of mouth, Low-set ears, Stereotypy, Hyper... OMIM:618718
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617767
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:616781
Retinitis Pigmentosa 71
Obesity OMIM:616394
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Frontal bossing, Brachycephaly, Cleft palate, High palate OMIM:600325
Joubert Syndrome With Renal Defect
Apnea, Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aganglionic me... ORPHA:220497
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Polymicrogyria, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth ORPHA:352530
Tremor, Autonomic bladder dysfunction, Respiratory distress, Hypertonia, Abnormal autonomic nervo... ORPHA:3299
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increa... OMIM:614450
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Skin-picking, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic lute... ORPHA:398069
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hearing impairment, Hyperactivity, Tetraplegia, Optic atrophy ORPHA:369939
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... ORPHA:2919
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Turricephaly, Cleft palate ORPHA:2145
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity ORPHA:500545
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Hand tremor, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Heari... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 28
Gait ataxia, Poor fine motor coordination, Abnormal pyramidal sign, Cerebellar vermis hypoplasia,... OMIM:618800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Obesity, Irritability, Abnormal fear/anxiety-rel... ORPHA:3077
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Abnormality of the dentition, Brachycephaly, High palate ORPHA:776
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Brachycephaly, Smooth philtrum, Wide mouth OMIM:615419
Foxg1 Syndrome
Inability to walk, Dystonia, Pachygyria, Difficulty walking, Excessive salivation, Hyperkinetic m... ORPHA:561854
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Thin upper lip vermilion, Brachycephaly, High palate, Prominent metopic ridge OMIM:618862
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Wide anterior fontanel, Abnormality of dental morphology, Fron... ORPHA:85199
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Obesity, Waddling gait, Broad-based gait OMIM:616756
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss... ORPHA:2198
Nephronophthisis 15
Obesity OMIM:614845
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta, Unilateral vestibular Schwannoma, Sensorineural heari... OMIM:603641
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Abnormal cranial nerve morphology, Gait ataxia, Akinesia, Abnormal vestibulo-... ORPHA:247234
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Smooth philtrum, Ataxia, Abnormali... OMIM:614104
Infantile Neuroaxonal Dystrophy
Dystonia, Diffuse axonal swelling, Drooling, Gait disturbance, Abnormal pyramidal sign, Spastic t... ORPHA:35069
Cornelia De Lange Syndrome 5
Long philtrum, Thin vermilion border, Downturned corners of mouth, Brachycephaly, Cleft palate, H... OMIM:300882
Joubert Syndrome With Oculorenal Defect
Apnea, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tachypnea, Molar tooth sign o... ORPHA:2318
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Polymicrogyria, Stereotypy OMIM:615282
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Large fontanelles, Brachycephaly, Turrice... ORPHA:171839
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, Everted lower lip vermilion, Smooth philtrum, Abnormality of the dent... OMIM:618342
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Abnormal palate morphology, Brachycephaly, Turricephaly ORPHA:93262
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Calvarial skull defect, Abnormality of the dentition, Brachycephaly, Coronal cra... ORPHA:228390
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Idiopathic Achalasia
Weight loss ORPHA:930
Juvenile Sialidosis Type 2
Loss of ability to walk, Ataxia, Low-set ears, Protruding tongue, Lower limb spasticity, Hearing ... ORPHA:93399
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereoty... OMIM:617695
Recombinant Chromosome 8 Syndrome
Downturned corners of mouth, Midface retrusion, Abnormality of the dentition, Thin upper lip verm... OMIM:179613
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Flat occiput, Unilateral cleft lip, Delayed cranial suture closure, Brachycephaly ORPHA:2511
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Anterior plagiocephaly, Front... ORPHA:163649
Craniofrontonasal Dysplasia
Craniosynostosis, Frontal bossing, Abnormality of the dentition, Plagiocephaly, Oral cleft, Brach... ORPHA:1520
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Midface retrusion, Abnormality of dental er... ORPHA:1327
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Short philtrum, Everted lower lip vermilion, Thick vermilion border, Myoclonus... ORPHA:411986
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Brachycephaly ORPHA:93950
Mental Retardation, Autosomal Dominant 58
Dental crowding, Wide mouth, Thick vermilion border, Plagiocephaly, High palate OMIM:618106
Distal Monosomy 10Q
Cochlear malformation, Clonus, Poor fine motor coordination, Oculomotor apraxia, Smooth philtrum,... ORPHA:96148
Joubert Syndrome 8
Hypertonia, Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Optic disc pallor, Hyperventilation OMIM:612291
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Cerebellar a... ORPHA:98768
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Oculomotor apraxia, Central apnea, Ataxia, Episodic tachypnea, Elon... OMIM:608629
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Brachycephaly, Cleft upper lip, Cleft palate OMIM:300958
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Desanto-Shinawi Syndrome
Thin upper lip vermilion, Midface retrusion, Brachycephaly, Downturned corners of mouth OMIM:616708
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Muenke Syndrome
High, narrow palate, Brachycephaly, Coronal craniosynostosis, Plagiocephaly ORPHA:53271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity ORPHA:436151
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Optic nerve hypoplasia, Abnormality of the helix, Repetitive ... ORPHA:401777
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia,... OMIM:609583
Narcolepsy 7
Obesity OMIM:614250
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Impaired proprioception, Limb ataxi... ORPHA:101
Pseudohypoparathyroidism Type 1C
Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decreased response to growt... ORPHA:79444
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Aganglionic m... ORPHA:870
Snijders Blok-Campeau Syndrome
Speech apraxia, Abnormality of the dentition, Low-set ears, Unsteady gait, Stereotypy, High, narr... OMIM:618205
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Turricephaly OMIM:616602
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Dyspnea, Gait disturbance, Abnormal pyramidal sign, Ataxia, Tachypnea... ORPHA:765
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebellar atrophy, Stereotypy, Stereotypical h... OMIM:618917
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large fontanelles, Frontal bossing, Flat occiput, Thickened calvaria, ... ORPHA:2780
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Chromosome 5P13 Duplication Syndrome
Short philtrum, Craniosynostosis, Frontal bossing, Brachycephaly, High palate, Turricephaly OMIM:613174
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short philtrum, Open mouth, Frontal bossing, Smooth philtrum, Plagiocephaly, Thin upper lip vermi... OMIM:616801
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Mental Retardation, Autosomal Dominant 40
Short philtrum, Gait ataxia, Open mouth, Everted lower lip vermilion, Tented upper lip vermilion,... OMIM:616579
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Downturned corners of mouth, Open mouth, Midface retrusion, Frontal bossing, Tented upper lip ver... OMIM:618430
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Wide mouth, Protruding tongue, Brachycephaly, Gingival overgrowth OMIM:618797
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing, Spasticity OMIM:304700
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachycephaly, Thin calvarium OMIM:122900
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Intellectual Developmental Disorder, X-Linked 98
Short philtrum, Open mouth, Macrotia, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Joubert Syndrome
Apnea, Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aganglionic me... ORPHA:475
Acrofrontofacionasal Dysostosis
Midface retrusion, Everted lower lip vermilion, Non-midline cleft lip, Brachycephaly, Cleft palat... ORPHA:1784
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Narrow mouth, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Ste... OMIM:619317
Joubert Syndrome 36
Sensorineural hearing impairment, Molar tooth sign on MRI, Open mouth OMIM:618763
Dysostosis, Stanescu Type
Wormian bones, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Midface retrusion,... ORPHA:1798
Fetal Trimethadione Syndrome
Midface retrusion, High palate, Brachycephaly ORPHA:1913
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Impaired vibratory sensation, Temporal optic disc pallor, Abnormal pyramidal ... ORPHA:459056
Joubert Syndrome With Ocular Defect
Apnea, Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Aganglionic me... ORPHA:220493
Biemond Syndrome Type 2
Obesity ORPHA:141333
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Delayed eruption of teeth, Wormian bones, Narrow palate, Abnormality of dental morphology, Fronta... ORPHA:763
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Flat occiput, Smooth philtrum, Wide mouth, Abnormal lip mo... ORPHA:2707
Mental Retardation, Autosomal Dominant 1
Self-injurious behavior, Polyphagia, Ataxia, Aggressive behavior OMIM:156200
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Conductive hearing impairment, Esophageal atresia, Morp... ORPHA:87
Monosomy 18P
Short philtrum, Carious teeth, Tooth malposition, Downturned corners of mouth, Hypodontia, Brachy... ORPHA:1598
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Progressive cerebellar ataxia, Hearing impairment, Impaired v... ORPHA:95433
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Brachyceph... OMIM:618736
Angelman Syndrome
Macroglossia, Drooling, Flat occiput, Wide mouth, Protruding tongue, Brachycephaly, Widely spaced... OMIM:105830
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Brachycephaly, Cleft palate, Dental malocclusion OMIM:608545
Clark-Baraitser syndrome
Frontal bossing, Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick l... OMIM:300602
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:617562
Even-Plus Syndrome
Midface retrusion, Hypodontia, Anal atresia, Brachycephaly, High palate OMIM:616854
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Wormian bones, Large fontanelles, Midface retrusion, Abnormal palate morphology, Tooth... ORPHA:1533
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Gait disturbance, Decreased nerve conduction velocity ORPHA:2928
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Ventilator dependence with inability to wean, Inspiratory stridor, Degen... OMIM:604320
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Stereotypy OMIM:616341
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Narrow mouth, Midface retrusion, Aplasia/Hypoplasia of the tongue, Trigonocepha... ORPHA:1790
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion, Midface retrusion, Plagiocephaly OMIM:617768
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Fasciculations, Dystonia, Macrotia, Ataxia, Cataplexy, Stereotypy, Motor axon... ORPHA:496641
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Cdkl5-Deficiency Disorder
Difficulty walking, Everted lower lip vermilion, Deep philtrum, Gait disturbance, Thick vermilion... ORPHA:505652
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Long philtrum, Thin vermilion border, Brachycephaly OMIM:614800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Trisomy 5P