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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hyperglycemia, Poly... ORPHA:329249
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Frontal bossing, Cleft palate OMIM:311895
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Burning Mouth Syndrome
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Impaired tem... ORPHA:353253
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... ORPHA:276580
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b... OMIM:613641
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type I diabetes me... ORPHA:276575
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum ORPHA:46
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypoglycemia, Leucine-Induced
Irritability, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly OMIM:309545
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Summitt Syndrome
Obesity OMIM:272350
Huntington Disease
Decreased body mass index, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Dep... ORPHA:399
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Functional abnormality of the inner ear, Dysesthesia, Cranial nerve ... ORPHA:268882
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia OMIM:600274
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Marcus-Gunn Syndrome
Cleft lip, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Narrow mouth ORPHA:2528
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, High palate OMIM:300983
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Gómez-López-Hernández Syndrome
Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion ORPHA:1532
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Narcolepsy Type 1
Obesity ORPHA:2073
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Superficial Siderosis
Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Unsteady gait, Dysmetri... ORPHA:247245
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Brad... OMIM:300894
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy, Short philtrum OMIM:300928
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Cough, Inability to walk, Abnormal posturing, Opisthoton... ORPHA:216866
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Dysphagia, Gait ataxia, Hand tremor, Atrophy/Degeneration a... OMIM:617862
Non-Distal Duplication 10Q
Frontal bossing, Everted lower lip vermilion, High palate, Brachycephaly ORPHA:1695
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth m... ORPHA:1387
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Downturned corn... OMIM:617752
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Potocki-Shaffer Syndrome
Turricephaly, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum OMIM:601224
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Thick vermilion border, Optic atrophy, Self-injurious behavior OMIM:619690
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... OMIM:128100
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
9q subtelomeric deletion syndrome
Midface retrusion, Protruding tongue DECIPHER:52
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Ravine Syndrome
Ataxia, Apnea, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atro... ORPHA:99852
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Hartnup Disorder
Glossitis OMIM:234500
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Deep philtrum, Brachycephaly OMIM:618859
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Chorea, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysph... ORPHA:216873
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... OMIM:620065
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Hyperesthesia ORPHA:137596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Spinocerebellar Ataxia Type 1
Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal brainste... ORPHA:98755
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Pulmonary Blastoma
Weight loss ORPHA:64741
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tuberculosis
Weight loss ORPHA:3389
Potocki-Shaffer Syndrome
Downturned corners of mouth, Short philtrum, Brachycephaly, Parietal foramina ORPHA:52022
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Obesity, Hypogonadism, Skin-picking... OMIM:615547
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait atax... OMIM:609425
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... ORPHA:3241
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp... ORPHA:206448
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Gingival overgrowth, Dysphagia, Choreoathetosis, High palate, Bilateral se... OMIM:619422
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio... OMIM:620270
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac... OMIM:618774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Broad phi... OMIM:618577
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Irritability, Gait distu... ORPHA:306682
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... OMIM:604757
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tr... OMIM:607454
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-c... ORPHA:263455
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Thin vermilion border, Widely spaced te... ORPHA:487825
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... OMIM:300942
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition OMIM:618603
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil... OMIM:616789
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft palate, Short ph... OMIM:619504
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Akinesia, Optic neuropathy, Optic a... OMIM:618249
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Brachycephaly ORPHA:320385
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Periventricular heterotopia, Macrotia, Self-biting, Recur... OMIM:300624
8Q12 Microduplication Syndrome
Long philtrum, Everted lower lip vermilion, Brachycephaly, Narrow mouth ORPHA:228399
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Oculomotor apraxia, Ataxia OMIM:617121
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Brachycephaly, High palate OMIM:615828
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Tented upper lip vermilion, Optic atrophy, Gait ataxia, Prominent antihelix, Hy... OMIM:617807
Perry Syndrome
Akinesia, Depression, Bradykinesia, Weight loss, Inappropriate behavior, Disinhibition, Short ste... OMIM:168605
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Perisylvian polymi... OMIM:619121
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocephaly OMIM:615433
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Microdontia OMIM:617364
Pierpont Syndrome
Smooth philtrum, Brachycephaly, Prominent median palatal raphe, Thin vermilion border, Widely spa... OMIM:602342
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Re... OMIM:615838
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dental crowding, Brachycephaly OMIM:615031
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Impaired vibratory sensation, Intestinal pseudo-obstruction, Aganglionic meg... OMIM:243180
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... OMIM:612469
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight OMIM:614063
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum OMIM:608027
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia OMIM:616831
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
2Q32Q33 Microdeletion Syndrome
Dental crowding, Brachycephaly, Cleft palate, Oligodontia, Thin vermilion border, High palate, Na... ORPHA:251019
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
German Syndrome
Brachycephaly, Orofacial cleft, Everted lower lip vermilion, High palate, Dolichocephaly, Open mo... ORPHA:2077
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clon... OMIM:617435
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Apnea, Episodic tac... ORPHA:79264
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab... ORPHA:72
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb... ORPHA:240094
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia, Midface retrusion OMIM:277720
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic atrophy, Narrow pal... ORPHA:313892
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Short philtrum, Dol... OMIM:618672
Joubert Syndrome 7
Encephalocele, Central apnea, Ataxia, Brainstem dysplasia, Episodic tachypnea, Oculomotor apraxia... OMIM:611560
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Thick vermilion border, Abnormal temper tantrums, Abnormal ... ORPHA:530983
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Dental crowding, Brachycephaly, Downturned corners of mouth, Long philt... OMIM:615761
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Intellectual Developmental Disorder, Autosomal Dominant 26
Deep philtrum, Brachycephaly, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth OMIM:615834
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palat... ORPHA:1790
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... OMIM:606407
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... OMIM:619911
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Sensorineural ... OMIM:618342
Muenke Syndrome
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Coronal craniosynostosis, Midface... OMIM:602849
Cerebrooculonasal Syndrome
Brachycephaly, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long ... ORPHA:66625
Macroglossia
Macroglossia OMIM:153630
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, High palate, Long philtrum, Midfac... OMIM:615539
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth, High palate, Smooth philtrum OMIM:300590
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Brachycephaly OMIM:616083
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Limb ataxia, Self-injurious ... OMIM:617695
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Postencephalitic Parkinsonism
Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Oculogyric... ORPHA:97349
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Grant Syndrome
Open bite, Frontal bossing, Brachycephaly, Abnormal palate morphology ORPHA:2097
Pseudodiastrophic Dysplasia
Frontal bossing, Brachycephaly, Smooth philtrum, Midface retrusion OMIM:264180
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly ORPHA:352530
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... ORPHA:289560
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Desanto-Shinawi Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion OMIM:616708
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,... OMIM:123450
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Narrow palate, Multiple suture craniosynostosis, Mi... ORPHA:207
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Brachycephaly, Cleft palate, Oligodontia, High palate OMIM:600325
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Open mouth, Short philtrum, Optic nerve hypoplasia ORPHA:228384
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Brachyturricepha... OMIM:218350
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Dental crowding OMIM:619264
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Juvenile Huntington Disease
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia ORPHA:248111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Thin upper lip vermilion, Brachycephaly, Smooth philtrum OMIM:615419
Craniofrontonasal Dysplasia
Frontal bossing, Craniosynostosis, Abnormality of the dentition, Brachycephaly, Orofacial cleft, ... ORPHA:1520
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ... OMIM:617302
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, High palate, Skull asymmetr... OMIM:601853
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Facial palsy, Dysphagia, Sensorineural hearing impairment OMIM:158900
Lujan-Fryns Syndrome
Dental crowding, Abnormality of the dentition, Brachycephaly, High palate, Short philtrum ORPHA:776
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Turricephaly, Brachycephaly, Cleft palate ORPHA:2145
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Nephronophthisis 15
Obesity OMIM:614845
Even-Plus Syndrome
Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia OMIM:616854
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Bifid uvula, Cleft palate, Cleft upper lip OMIM:300958
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa... OMIM:614299
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b... OMIM:618917
Cornelia De Lange Syndrome 5
Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Wid... OMIM:300882
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Ataxia, Oculomotor apraxia, Hypertonia, Molar tooth s... OMIM:612291
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia ORPHA:363400
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Aglossia OMIM:241310
Idiopathic Achalasia
Weight loss ORPHA:930
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Flat occiput, Dolichocephaly, Brachycephaly, Downturned corners of mout... OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation OMIM:616116
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Downturned corners of mouth, Self-injurious behavior, Low-set e... OMIM:618718
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Tented upper lip vermilion, Brachycephaly, Smooth philtrum OMIM:620240
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen... OMIM:614450
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Apnea, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxi... OMIM:617903
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Thin upper lip vermilion, Frontal bossing, Brachycephaly, Plagiocephaly, Short philtrum, Open mou... OMIM:616801
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n... ORPHA:3299
Joubert Syndrome 1
Central apnea, Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Brainstem dysplasia, E... OMIM:213300
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Abnormal palate morphology ORPHA:93262
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Thick vermilion border, Brachycephaly ORPHA:85290
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Thick lower lip vermilion, Gingival overg... OMIM:179613
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly OMIM:618862
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Brachycephaly, Downturned ... OMIM:618430
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost... ORPHA:228390
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d... ORPHA:398069
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Anal atresia ORPHA:93950
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 7
Thin upper lip vermilion, Hyperactivity, Ataxia, Abnormal pinna morphology, Thick lower lip vermi... OMIM:614104
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Optic nerve hypoplasia, Dysphagia, Pachygyria, Abnormal repetitive mannerisms ORPHA:572013
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth OMIM:618797
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms OMIM:615282
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha... OMIM:603116
Fetal Trimethadione Syndrome
High palate, Brachycephaly, Midface retrusion ORPHA:1913
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mouth, Plagiocephaly, High palate,... ORPHA:369891
Foxg1 Syndrome
Dystonia, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Hyperkineti... ORPHA:561854
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Dental malocclusion, Brachycephaly, Downturned corners... ORPHA:1327
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, T... ORPHA:101085
Muenke Syndrome
Plagiocephaly, High, narrow palate, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Thick lower lip vermilion, Prominent median pa... OMIM:300602
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Joubert Syndrome 40
Molar tooth sign on MRI, Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Bradykinesia, Agitation,... ORPHA:411602
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom... ORPHA:220497
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Dysmetria, Cleft palate, Glosso... OMIM:618356
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression ORPHA:276630
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Midface retrusion, High palate, Narrow mouth, Brachyturricephaly, Dent... OMIM:613849
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Dental malocclusion, Macrotia, Abnormal repe... OMIM:615541
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... OMIM:123500
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Rett Syndrome
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic ner... ORPHA:778
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, Long philtrum ORPHA:171839
Joubert Syndrome 25
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Hydrocephalus,... ORPHA:2318
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Joubert Syndrome 2
Encephalocele, Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, At... OMIM:608091
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Babinski sign, Spastic dysarthria, Difficulty walking, Dystoni... ORPHA:280763
Huntington Disease-Like 2
Bradykinesia, Weight loss OMIM:606438
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Acrofrontofacionasal Dysostosis
Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High palate, Mid... ORPHA:1784
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Dolichocephaly, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion OMIM:619721
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Ataxia, Facial palsy, Hearing impairment, Sensorineural hearing impairment, Dysph... OMIM:211530
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Kury-Isidor Syndrome
Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Lon... OMIM:619762
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Xq28 (MECP2) duplication
Brachycephaly, Narrow mouth DECIPHER:45
Meckel Syndrome 13
Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Brachycephaly, Macroglossia, Everte... OMIM:610253
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Inability to walk, Simplified gyral pattern, Wide mouth, Widely spaced ... OMIM:619877
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Frontal bossing, Midface retrusion, Cleft palate ORPHA:440354
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Optic atrophy, A... ORPHA:87
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, High, narrow palate, Brachycephaly, Wide mouth, Abnormal upper lip morphology, Abno... ORPHA:2707
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... OMIM:157980
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil... ORPHA:163649
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
Joubert Syndrome 20
Aggressive behavior, Inability to walk, Oculomotor apraxia, Respiratory insufficiency, Molar toot... OMIM:614970
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Dysphagia... ORPHA:251061
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Orofaciodigital Syndrome Xix
Frontal bossing, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, Carious teeth, Narro... OMIM:620107
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Monosomy 18P
Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodont... ORPHA:1598
Angelman Syndrome
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth OMIM:105830
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Smith-Magenis Syndrome
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... OMIM:182290
Joubert Syndrome 36
Molar tooth sign on MRI, Open mouth, Sensorineural hearing impairment OMIM:618763
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dysphagia, Dystonia, Spasticity OMIM:304700
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykine... ORPHA:225147
Trisomy 5P
Obesity ORPHA:1742
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis... ORPHA:3201
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Downturned corners of mouth, High... OMIM:613174
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Hypoplasia of the pons, Prominent ear helix, Inability to walk, Large e... ORPHA:411986
Biemond Syndrome Type 2
Obesity ORPHA:141333
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Widely spaced teeth, Low-set ... OMIM:619092
Igg4-Related Ophthalmic Disease
Sialadenitis, Colon cancer, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital... ORPHA:449563
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Frontal bossing, Pierre-Robin sequence, Glossoptosis, High palate, Open... OMIM:613604
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social int... OMIM:156200
Chronic Hiccup
Weight loss ORPHA:396
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Breathing dysregulation, Oculomot... OMIM:610688
Distal Deletion 10Q
Thin upper lip vermilion, Ataxia, Aggressive behavior, Congenital sensorineural hearing impairmen... ORPHA:96148
Aica-Ribosuria Due To Atic Deficiency
Wide mouth, Thin upper lip vermilion, Frontal bossing, Brachycephaly OMIM:608688
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Babinski sign, D... OMIM:612069
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... OMIM:609583
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia OMIM:612716
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom... ORPHA:220493
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Unilateral cleft lip, Brachycephaly ORPHA:2511
Larsen-Like Syndrome
Frontal bossing, Dental malocclusion, Brachycephaly, Cleft palate OMIM:608545
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Brachycephaly, High palate, Short philtrum ORPHA:3306
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Isaacs Syndrome
Weight loss ORPHA:84142
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Morm Syndrome
Truncal obesity ORPHA:75858
Optic Atrophy-Intellectual Disability Syndrome