Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Delayed speech and language development, Anxiety |
OMIM:614346 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Aggressive behavior, Impaired social interactions, Delayed speech and language ... |
ORPHA:329249 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... |
ORPHA:280397 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Obesity |
ORPHA:71529 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormality of taste sensation, Abnormal fifth cr... |
ORPHA:353253 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing |
OMIM:311895 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Large for gestational age, Agitati... |
ORPHA:276580 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Delayed speech and language development, Anxiety |
OMIM:300387 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Agitation, Hyperinsulinemi... |
ORPHA:276575 |
Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Di... |
ORPHA:276556 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Pick Disease Of Brain |
|
Diminished motivation, Emotional blunting, Echolalia, Apathy, Polyphagia, Language impairment, Di... |
OMIM:172700 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Decreased response to growth hormone stimulation test, Emotional lability, D... |
OMIM:614963 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Irritability, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Delayed speech and language development, Large for gestational age, Polyphagia, Obe... |
OMIM:617119 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Delayed speech and language development, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Insulinoma |
|
Hyperinsulinemia, Anxiety, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Ne... |
ORPHA:97279 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Obesity, Glucose intolerance |
ORPHA:369873 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Delayed speech and language development, Obesity, Emotional lability, Absent speech |
OMIM:309585 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
Huntington Disease |
|
Aggressive behavior, Gait imbalance, Inability to walk, Weight loss, Suicidal ideation, Choking e... |
ORPHA:399 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Happy demeanor, Ataxia, Absent speech, Polyphagia, Obesity, Broad-based gait |
ORPHA:411515 |
Frontotemporal Dementia |
|
Diminished motivation, Apathy, Polyphagia, Amyotrophic lateral sclerosis, Language impairment, Di... |
OMIM:600274 |
Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum |
ORPHA:46 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... |
OMIM:275000 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ... |
ORPHA:179494 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion |
OMIM:309545 |
Arnold-Chiari Malformation Type I |
|
Gait ataxia, Functional abnormality of the inner ear, Somatic sensory dysfunction, Adult onset se... |
ORPHA:268882 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Schwannomatosis 1 |
|
Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Delayed speech and language development, Polyphagia, Obesity, Self-mutilation |
OMIM:616521 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Distal sensory impairment, Steppage gait, V... |
OMIM:613641 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Marcus-Gunn Syndrome |
|
Cleft palate, Abnormal ear morphology, Cleft lip, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
6Q16 Microdeletion Syndrome |
|
Delayed speech and language development, Obesity, Polyphagia, Broad-based gait |
ORPHA:171829 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Narrow mouth, High palate |
ORPHA:2528 |
Adiposis Dolorosa |
|
Obesity, Depression, Anxiety |
OMIM:103200 |
Superficial Siderosis |
|
Paresthesia, Dysdiadochokinesis, Progressive gait ataxia, Limb ataxia, Ataxia, Vertigo, Impaired ... |
ORPHA:247245 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Thin vermilion border, Midface retrusion, Turricephaly |
ORPHA:1532 |
Huntington Disease-Like 2 |
|
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... |
OMIM:606438 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Akinesia, Dysdiadochokinesi... |
ORPHA:247234 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Bardet-Biedl Syndrome 9 |
|
Delayed speech and language development, Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Pol... |
OMIM:615986 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... |
OMIM:609734 |
Ravine Syndrome |
|
Spasticity, Abnormal brainstem morphology, Abnormal auditory evoked potentials, Ataxia, Apnea, At... |
ORPHA:99852 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea |
OMIM:617442 |
Robin Sequence-Oligodactyly Syndrome |
|
Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Difficulty walking, Craniofacial ... |
OMIM:619565 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
Schaaf-Yang Syndrome |
|
Inability to walk, Hypogonadism, Delayed speech and language development, Absent speech, Impulsiv... |
OMIM:615547 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Segmental peripheral demyelination, Tongue atrophy, Decreased motor nerve co... |
OMIM:601596 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Non-Distal Trisomy 10Q |
|
Everted lower lip vermilion, Brachycephaly, High palate, Frontal bossing |
ORPHA:1695 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly, Short philtrum, Downturned corners of mouth |
OMIM:601224 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, High palate, Short philtrum, Midface retrusion, Everted lower lip vermilion, Furro... |
ORPHA:1387 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Optic atrophy, Tongue atrophy, Gait disturbance, Compulsive behaviors, Impulsivity, Dysph... |
ORPHA:216873 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Spasticity, Aspiration pneumonia, Tip-toe gait, Inability to walk, Generalize... |
ORPHA:216866 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Attention deficit hyperactivity disorder, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Thin upper lip vermilion, Craniosy... |
ORPHA:314575 |
Clark-Baraitser Syndrome |
|
Brachycephaly, High palate, Long philtrum, Wide mouth, Short philtrum, Dolichocephaly, Thin upper... |
OMIM:617752 |
Adult Krabbe Disease |
|
Hoffmann sign, Somatic sensory dysfunction, Progressive spastic paraparesis, Spasticity, Clumsine... |
ORPHA:206448 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign,... |
OMIM:128100 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, High palate, Optic atrophy, Ataxia, Abnormal pinna morphology |
OMIM:300983 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, No social interaction, Suicidal ideation... |
ORPHA:96369 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Short philtrum, Optic atrophy |
OMIM:300928 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Neurotrophic Keratopathy |
|
Hyperesthesia, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Anxiety, L... |
OMIM:613670 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... |
ORPHA:168782 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic parapares... |
OMIM:300894 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Aica-Ribosiduria |
|
Brachycephaly, Thin upper lip vermilion, Wide mouth |
ORPHA:250977 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Downturned corners of mouth, Deep philtrum |
OMIM:618859 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Loss of Purkinje cells in the cerebellar vermis, Abnormal nerve conduction velocity, Abno... |
ORPHA:98755 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Motor deteriorati... |
ORPHA:412066 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Craniosynostosis, Thickened calvaria |
ORPHA:178377 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai... |
ORPHA:251282 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Short philtrum, Dolichocephaly, High, narrow palate |
OMIM:615433 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
High palate, Optic atrophy, Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, ... |
OMIM:619422 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Downturned corners of mouth, Short philtrum, Parietal foramina |
ORPHA:52022 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem... |
ORPHA:263455 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Neuromuscular dysphagia, Palilalia, Gait imbalance, Falls, Akinesia, Short stepped shuffling gait... |
ORPHA:240094 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... |
OMIM:300942 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Delayed speech and language development, Obesity, Anxiety |
OMIM:618725 |
11P15.4 Microduplication Syndrome |
|
Aggressive behavior, Obesity, Delayed speech and language development |
ORPHA:300305 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum |
OMIM:618732 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Shyness, Delayed speech and language development, Overgrowth, Polyphagia, An... |
OMIM:616831 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Delayed speech and language development, Ataxia, Polyphagia |
ORPHA:228402 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia, Vertigo |
ORPHA:71518 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Thick upper lip vermilion, Patent ductus arteriosus, Deep philtrum, Widely spaced te... |
OMIM:619717 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Hand tremor, Cerebellar atrophy, Atrophy/Degeneration affec... |
OMIM:617862 |
Fraxe Intellectual Disability |
|
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... |
ORPHA:100973 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Optic neuropat... |
OMIM:618249 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Midface retrusion |
DECIPHER:52 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Unilambdoid synostosis, Broad phi... |
OMIM:618577 |
Joubert Syndrome 28 |
|
Oculomotor apraxia, Optic disc pallor, Molar tooth sign on MRI, Ataxia |
OMIM:617121 |
Wagro Syndrome |
|
Aggressive behavior, Echolalia, Impaired social interactions, Agitation, Emotional lability, Poly... |
OMIM:612469 |
Cebalid Syndrome |
|
Brachycephaly, High palate, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platy... |
OMIM:618774 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Hyperactivity, Broad-based gait, Optic atrophy |
OMIM:619470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Spasticity, Respiratory failure, Gait disturbance, Ataxia, Babinski sign, Spastic tetraparesis, L... |
OMIM:615838 |
Fragile X Syndrome |
|
Hyperactivity, Macrotia, Periventricular heterotopia, Abnormal head movements, Recurrent hand fla... |
OMIM:300624 |
Hyperostosis Frontalis Interna |
|
Obesity |
OMIM:144800 |
Craniosynostosis 2 |
|
Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ... |
OMIM:604757 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis |
ORPHA:382 |
Pierpont Syndrome |
|
Brachycephaly, Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth... |
ORPHA:487825 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Gait ataxia, Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physio... |
OMIM:243180 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Emotio... |
ORPHA:525731 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypogonadism |
ORPHA:791 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Hypoglyce... |
OMIM:262190 |
Huntington Disease-Like 1 |
|
Gait ataxia, Poor fine motor coordination, Abnormal posturing, Chorea, Clumsiness, Gait disturban... |
ORPHA:157941 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
8Q12 Microduplication Syndrome |
|
Everted lower lip vermilion, Brachycephaly, Narrow mouth, Long philtrum |
ORPHA:228399 |
Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Aggressive behavior, Self-injurious behavior, Inabi... |
ORPHA:72 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Ataxia, Abnormal repetitive mannerisms, Thick vermilion border |
ORPHA:530983 |
Pierpont Syndrome |
|
Brachycephaly, Widely spaced teeth, Prominent median palatal raphe, Midface retrusion, Everted lo... |
OMIM:602342 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Congenital Myopathy 13 |
|
Brachycephaly, High palate, Midface retrusion, Downturned corners of mouth, Cleft palate |
OMIM:255995 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Plagiocephaly, Wide mouth, Macroglossia, Frontal bossing, Everted lower lip vermil... |
OMIM:616789 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Microglossia |
ORPHA:141152 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... |
ORPHA:454887 |
Perry Syndrome |
|
Weight loss, Akinesia, Suicidal ideation, Apathy, Short stepped shuffling gait, Anxiety, Disinhib... |
OMIM:168605 |
Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Pierre-Robin sequence, Short philtrum, Midface retrusion, Thin upper lip vermilion... |
OMIM:619504 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Large for ... |
OMIM:616116 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Dental crowding |
ORPHA:320385 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Lar... |
ORPHA:552 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Aspiration pneumonia, Episodic tachypnea, Myoclonic spasms, Clumsin... |
ORPHA:79264 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, High palate, Plagiocephaly, Cleft palate, Tooth malposition |
OMIM:618603 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Hyperinsulinemia, Delayed speech and language development, Insulin re... |
ORPHA:363400 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... |
ORPHA:177904 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... |
OMIM:611560 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Speech articu... |
ORPHA:177901 |
Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, High palate, Long philtrum, Downturned corners of mouth, High, narrow palate |
OMIM:608027 |
Man1B1-Cdg |
|
Polyphagia, Broad-based gait, Truncal obesity |
ORPHA:397941 |
Deafness-Craniofacial Syndrome |
|
Bifid tongue, Short lingual frenulum, Short philtrum, Frontal bossing, Abnormal palate morphology... |
ORPHA:3241 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing |
OMIM:617364 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Abnormal autonomic nervous... |
OMIM:616840 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Microglossia, ... |
OMIM:614669 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... |
OMIM:606407 |
Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Episodic tachypnea, Stereotypical han... |
ORPHA:3095 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Dental crowding |
OMIM:615031 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity, Hypergonadotropic hypogonadism |
ORPHA:3085 |
German Syndrome |
|
Brachycephaly, High palate, Midface retrusion, Dolichocephaly, Everted lower lip vermilion, Open ... |
ORPHA:2077 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Akinesia, Resting tremor, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... |
OMIM:619911 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Brachycephaly, High palate, Thick lower lip vermilion, Frontal bossing, Tented upper lip vermilion |
OMIM:615828 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Dolichocephaly, Downturned corne... |
OMIM:618672 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Microtia, Tongue atrophy, Ataxia... |
OMIM:141300 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements |
OMIM:616939 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Long philtrum, Glossoptosis |
ORPHA:166100 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Deep philtrum, Wide mouth, Short philtrum, Narrow mouth, Thick vermilion border |
OMIM:615834 |
Central Precocious Puberty |
|
Overgrowth, Obesity, Increased body weight |
ORPHA:759 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Abnormal repetitive mannerisms, A... |
ORPHA:313892 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Akinesia, Postural tremor, Parkinsonism, Abnormality of extrapyramidal motor functio... |
OMIM:607454 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Smooth philt... |
OMIM:615761 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance |
ORPHA:79084 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking, Long ... |
OMIM:309548 |
Mehmo Syndrome |
|
Gait ataxia, Aggressive behavior, Decreased response to growth hormone stimulation test, Inabilit... |
OMIM:300148 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Pachygyria, Dysphagia |
ORPHA:572013 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Bulimia, Dela... |
ORPHA:398073 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Catel-Manzke Syndrome |
|
Cleft palate, Oral synechia, Glossoptosis |
ORPHA:1388 |
2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, High palate, Long philtrum, Oligodontia, Dental crowding, Narrow mouth, Thin vermi... |
ORPHA:251019 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity |
ORPHA:3055 |
Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, High palate, Plagiocephaly, Coronal craniosynostosis, Midface... |
OMIM:602849 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, High palate, Long philtrum, Midface retrusion, Frontal bossing, Narrow mouth, Dent... |
OMIM:615539 |
Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Cornelia De Lange Syndrome 2 |
|
Brachycephaly, High palate, Thin upper lip vermilion, Downturned corners of mouth, Smooth philtrum |
OMIM:300590 |
5Q14.3 Microdeletion Syndrome |
|
Open mouth, Short philtrum, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxi... |
ORPHA:66625 |
Multiple Carboxylase Deficiency |
|
Optic atrophy, Respiratory distress, Ataxia, Spastic paraparesis, Tachypnea |
ORPHA:148 |
Juvenile Huntington Disease |
|
Gait ataxia, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait, Bradykinesia |
ORPHA:248111 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Delayed speech and language development, Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Growth delay, Optic atrophy |
OMIM:274270 |
Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Long philtrum, Midface retrusion, Narrow mouth, Microglossia, Whistling appearance |
OMIM:277720 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, In... |
OMIM:614450 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Hypertonia, Occipital encephalocele, Optic d... |
OMIM:612291 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Echolalia, Delayed speech and language development, Overweight, Tall stature, A... |
OMIM:615032 |
Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial dipl... |
OMIM:617302 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor functio... |
OMIM:614299 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... |
ORPHA:98773 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly, Thin upper lip vermilion, Downturned corners of mouth |
ORPHA:352530 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
Pseudodiastrophic Dysplasia |
|
Brachycephaly, Midface retrusion, Smooth philtrum, Frontal bossing |
OMIM:264180 |
Hypomandibular Faciocranial Dysostosis |
|
Brachycephaly, Aplasia/Hypoplasia of the tongue, Bifid uvula, Midface retrusion, Narrow mouth, Tr... |
ORPHA:1790 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Weight loss, Abnormal large intestine morphology, Esophageal neoplasm, A... |
ORPHA:2198 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
Grant Syndrome |
|
Brachycephaly, Abnormal palate morphology, Open bite, Frontal bossing |
ORPHA:2097 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Spastic dysarthria, Abnormal repetitive mannerisms, B... |
ORPHA:280763 |
Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Brachyturricephaly, Pyloric stenosis, Midface retrusion, Frontal bossing, Abnormal... |
OMIM:218350 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Kufor-Rakeb Syndrome |
|
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... |
OMIM:606693 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Crouzon Syndrome |
|
Brachycephaly, Narrow palate, Turricephaly, Midface retrusion, Frontal bossing, Multiple suture c... |
ORPHA:207 |
Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia, Emotional lability |
OMIM:615538 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia, Vertigo |
ORPHA:79136 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398069 |
Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, High palate, Oligodontia, Frontal bossing, Cleft palate |
OMIM:600325 |
Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal substantia nigra morphology, Abnormal pyramidal sign, Akinesi... |
ORPHA:97349 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Bico... |
OMIM:616602 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Craniofrontonasal Dysplasia |
|
Brachycephaly, High palate, Plagiocephaly, Frontal bossing, Orofacial cleft, Craniosynostosis, Ab... |
ORPHA:1520 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Delayed puberty, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Abnormal aggressive, impulsive or vi... |
ORPHA:3077 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Unilateral vestibular schwannoma, Amelogenes... |
OMIM:603641 |
Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, High palate, Turricephaly, Midface retrusion, Smooth philtrum, Th... |
OMIM:601853 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly, Thin upper lip vermilion, Wide mouth, Smooth philtrum |
OMIM:615419 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Lujan-Fryns Syndrome |
|
Brachycephaly, High palate, Short philtrum, Dental crowding, Abnormality of the dentition |
ORPHA:776 |
Foxg1 Syndrome |
|
Spasticity, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathetosis, Abnormal ... |
ORPHA:561854 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Cleft palate, Craniosynostosis, Turricephaly |
ORPHA:2145 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, High palate, Abnormal tongue physiology, Wide mouth, Recurrent hand flapping, Gait dist... |
ORPHA:544254 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, High palate, Long philtrum, Dolichocephaly, Anal atresia, Thin upper lip vermilion... |
OMIM:613792 |
Cornelia De Lange Syndrome 5 |
|
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Downturned corners of mouth, Thin... |
OMIM:300882 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Gait ataxia, Cerebellar vermis atrophy, Abnormal autonomic nervous system physiology, Limb ataxia... |
OMIM:614575 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly |
OMIM:300699 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity |
ORPHA:261483 |
Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Thick lower lip vermilion, Midface retrusion, Thin upper lip vermilion, Downturned... |
OMIM:179613 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Spasticity, Inability to walk, Stereotypical hand wringing, Hyperkinetic movements, Myocl... |
OMIM:614254 |
Desanto-Shinawi Syndrome |
|
Brachycephaly, Thin upper lip vermilion, Downturned corners of mouth, Midface retrusion |
OMIM:616708 |
Even-Plus Syndrome |
|
Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia |
OMIM:616854 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus,... |
ORPHA:220497 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Cleft palate, Cleft upper lip, Bifid uvula |
OMIM:300958 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Wide mouth |
OMIM:616083 |
Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth p... |
OMIM:616801 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Brachycephaly, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, ... |
ORPHA:228390 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Truncal obesity |
OMIM:618160 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Tachypnea, Ataxia, ... |
ORPHA:2318 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Abnormal palate morphology, Turricephaly, Frontal bossing |
ORPHA:93262 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Short philtrum, Abnormal repetitive mannerisms, Co... |
ORPHA:352490 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Dystonia, Bruxism |
OMIM:619150 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology, Recurrent hand flapping, Gait disturbance, Apnea, D... |
OMIM:617903 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly, Midface retrusion, Frontal bossing, Thin upper lip vermilion, Downt... |
OMIM:618430 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Dental malocclusion, High palate, Midface retrusion, Abnormality of dental eruptio... |
ORPHA:1327 |
Tetanus |
|
Rigidity, Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder d... |
ORPHA:3299 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Abnormal autonomic nervous system physiology, Lim... |
ORPHA:778 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Anal atresia |
ORPHA:93950 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on... |
OMIM:608091 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Sensorineural hearing impairment, Tongue atrophy, Facial palsy |
OMIM:158900 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Occipital encephalocele |
OMIM:617562 |
Perlman Syndrome |
|
Hyperinsulinemia, Tall stature |
ORPHA:2849 |
Cdags Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Midface re... |
OMIM:603116 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment, Ataxia |
OMIM:271250 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Short philtrum, Abnormal repetitive mannerisms, Large earlobe, Everted lower l... |
ORPHA:411986 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Brachycephaly, Thin upper lip vermilion, High palate, Plagiocephaly |
OMIM:618862 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Fasting... |
ORPHA:2298 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Blepharospasm, Bradykinesia, Abnormal pyramidal sign, Optic atrophy, Akinesia, Parkin... |
OMIM:234200 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Self... |
OMIM:176270 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis |
OMIM:614416 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, High palate, Thick lower lip vermilion, Hypodont... |
OMIM:618342 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Repetitive compulsive behavior, Optic nerve hypoplasia, Compulsive behaviors, Atte... |
ORPHA:401777 |
X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Failure to thrive, Female infertility |
OMIM:619518 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... |
ORPHA:87 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Midface retrusion, Ma... |
ORPHA:369891 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
Fetal Trimethadione Syndrome |
|
Brachycephaly, Midface retrusion, High palate |
ORPHA:1913 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... |
ORPHA:280219 |
Muenke Syndrome |
|
Brachycephaly, High, narrow palate, Plagiocephaly, Coronal craniosynostosis |
ORPHA:53271 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Turricephaly, Long philtrum, Thin vermilion border, Craniosynostosis |
ORPHA:171839 |
Joubert Syndrome 36 |
|
Open mouth, Sensorineural hearing impairment, Molar tooth sign on MRI |
OMIM:618763 |
Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Weight loss, Apathy, Agitation, Impulsivity, Dysphagia, Low frustration... |
ORPHA:411602 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Weight loss, Cachexia, Ataxia |
OMIM:613662 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Brachyturricephaly, Delayed eruption of teeth, Midface re... |
OMIM:613849 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Crouzon Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, High palate, Coronal craniosynostosis, Midface retrusio... |
OMIM:123500 |
Igg4-Related Ophthalmic Disease |
|
Colon cancer, Abnormality of infra-orbital nerve, Sialadenitis, Abnormal fifth cranial nerve morp... |
ORPHA:449563 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,... |
ORPHA:1501 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Brachycephaly, Wide mouth, Protruding tongue, Flat occiput, Gingival overgrowth |
OMIM:618797 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Dolichocephaly, Frontal bossing |
OMIM:619721 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Impaired distal vibration sensation, Optic atrophy, Titubation, Clumsiness, Torticol... |
ORPHA:98768 |
Down Syndrome |
|
Brachycephaly, Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macr... |
ORPHA:870 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Oculomotor apraxia, Ataxia, Thic... |
OMIM:609583 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Brachycephaly, Wide mouth, Microdontia, Abnormal lip morphology, Short philtrum, Abnormal upper l... |
ORPHA:2707 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Acrofrontofacionasal Dysostosis |
|
Brachycephaly, Non-midline cleft lip, High palate, Midface retrusion, Everted lower lip vermilion... |
ORPHA:1784 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus,... |
ORPHA:220493 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Sensorineural hearing impairment, Tongue atrophy, Ataxia, Cranial nerve motor loss, Dysphagia, To... |
OMIM:211530 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, High palate, Long philtrum, Frontal bossing, Downturned corners of mouth, Cleft pa... |
ORPHA:163649 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Peripheral demyelination, Abnormal autonomic nervous system phy... |
OMIM:609136 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Parkinson Disease 17 |
|
Bradykinesia, Akinesia |
OMIM:614203 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Joubert Syndrome 33 |
|
Apnea, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia |
OMIM:617767 |
Momo Syndrome |
|
Brachycephaly, Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick ... |
OMIM:157980 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Sensorineural hearing impairment, Spastic ataxia, Inability to walk,... |
ORPHA:300570 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Temporal optic disc pallor, Abnormal pyramidal sign, Spasticity, Titubation, Spastic paraplegia, ... |
ORPHA:459056 |
Clark-Baraitser syndrome |
|
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... |
OMIM:300602 |
Kury-Isidor Syndrome |
|
Brachycephaly, High palate, Long philtrum, Widely spaced teeth, Frontal bossing, Triangular mouth... |
OMIM:619762 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, High palate, Turricephaly, Short philtrum, Frontal bossing, Downturned corners of ... |
OMIM:613174 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Ventilator dependence with inability to wean, Diaphragmatic ... |
OMIM:604320 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Monosomy 18P |
|
Brachycephaly, Hypodontia, Short philtrum, Downturned corners of mouth, Carious teeth, Cleft pala... |
ORPHA:1598 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Primary hypothyroidism |
ORPHA:95427 |
Joubert Syndrome |
|
Encephalocele, Episodic tachypnea, Aganglionic megacolon, Oculomotor apraxia, Hydrocephalus, Gait... |
ORPHA:475 |
Joubert Syndrome 1 |
|
Neonatal breathing dysregulation, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated... |
OMIM:213300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Reduced eye contact, Aggressive behavior, Abnormality of neuronal migration, Delayed speech and l... |
ORPHA:163681 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Cochlear degeneratio... |
ORPHA:95433 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Kleefstra Syndrome 1 |
|
Brachycephaly, Natal tooth, Midface retrusion, Macroglossia, Everted lower lip vermilion, Protrud... |
OMIM:610253 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Long philtrum, Thick lower lip vermilion, Large for gestational age, Optic nerve hypoplasia, Thin... |
ORPHA:137634 |
Manganese Poisoning |
|
Aggressive behavior, Akinesia, Gait disturbance, Emotional lability, Irritability, Bradykinesia |
ORPHA:306682 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Incomplete partitio... |
OMIM:113650 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypoglycemia, Hypergonadotropic h... |
ORPHA:79237 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Apnea, Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker m... |
OMIM:617622 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar vermis atrophy, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremo... |
OMIM:617435 |
Xq28 (MECP2) duplication |
|
Brachycephaly, Narrow mouth |
DECIPHER:45 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity |
OMIM:615703 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Sensorineural hearing impairment, Optic disc pallor, Absence of acoustic reflex, Hypoesthesia, Th... |
OMIM:619737 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Ataxia, Polyphagia, A... |
OMIM:156200 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, Insulin-resis... |
OMIM:604367 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction, A... |
ORPHA:231169 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Motor axonal neuropathy, Truncal ataxia, Progressive gait ataxia, Limb a... |
ORPHA:247815 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Flat occiput, Unilateral cleft lip |
ORPHA:2511 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Molar tooth sign on MRI, Elongated superior cerebellar peduncle... |
OMIM:608629 |
Angelman Syndrome |
|
Brachycephaly, Wide mouth, Widely spaced teeth, Macroglossia, Protruding tongue, Flat occiput |
OMIM:105830 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Aglossia, Pursed lips |
OMIM:241310 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue, Decreased nerve conduction velocity, Truncal obesity |
ORPHA:2928 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bifid tongue, Flat occiput, Bilateral cleft lip and palate |
ORPHA:2001 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Optic atrophy, ... |
OMIM:614424 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... |
ORPHA:101085 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban... |
ORPHA:225147 |
Smith-Magenis Syndrome |
|
Brachycephaly, Everted upper lip vermilion, Velopharyngeal insufficiency, Midface retrusion, Orof... |
OMIM:182290 |
Congenital Disorder Of Glycosylation, Type Il |
|
Brachycephaly, Long philtrum, Wide mouth, Frontal bossing |
OMIM:608776 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... |
OMIM:620107 |
Lipoid Proteinosis |
|
High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo... |
ORPHA:530 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Hypodontia, Submucous cleft hard palate, Abnormality of the sense of smell, High, narrow palate, ... |
ORPHA:3201 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Mandibular con... |
OMIM:602483 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Anxiety, Choreoathetosis, Irritability, Re... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Anxiety, Irritability, Reduced circulating... |
ORPHA:79444 |
Antley-Bixler Syndrome |
|
Brachycephaly, Long philtrum, Turricephaly, Frontal bossing, Narrow mouth, Cleft palate, Craniosy... |
ORPHA:83 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Pierre-Robin sequence, High palate, Frontal bossing, Thin upper lip vermilion, Open mouth, Glosso... |
OMIM:613604 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Dysostosis, Stanescu Type |
|
Brachycephaly, Midface retrusion, Macroglossia, Abnormal palate morphology, Tooth agenesis, Cario... |
ORPHA:1798 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Obesity, Anxiety |
OMIM:301013 |
Atkin-Flaitz Syndrome |
|
Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Maxi... |
OMIM:300431 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Aggressive behavior, Emotional lability, Broad-based gait, Absent speech, Polyphagia, Restlessnes... |
ORPHA:251028 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Respiratory paralysis, Irregular respiration, Choreoathetos... |
ORPHA:79139 |
Central Diabetes Insipidus |
|
Failure to thrive, Lethargy, Weight loss |
ORPHA:178029 |
Larsen-Like Syndrome |
|
Brachycephaly, Cleft palate, Dental malocclusion, Frontal bossing |
OMIM:608545 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Midface retrusion, Glossoptosis, Frontal bossing |
ORPHA:440354 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor, Dystonia |
OMIM:304700 |
Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:98293 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Del... |
OMIM:615363 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
High palate, Recurrent hand flapping, Attention deficit hyperactivity disorder, Low-set ears, Ope... |
OMIM:620021 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Abnormal pyramidal sign, Parkinsonism, Parkinsoni... |
ORPHA:240071 |
Charge Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Abnormal soft palate morphology, Abnormal cranial nerve... |
ORPHA:138 |
Aica-Ribosuria Due To Atic Deficiency |
|
Brachycephaly, Thin upper lip vermilion, Wide mouth, Frontal bossing |
OMIM:608688 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, Brachyturricephaly, Frontal bossing, Cleft palate, High, narrow palate |
OMIM:607597 |
|