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 |
|