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Gene: Bdnf MGI:88145

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
brain derived neurotrophic factor
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Bdnf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bdnf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wagr Syndrome
Obesity ORPHA:893
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Hyperglycemia, Poly... ORPHA:329249
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Frontal bossing, Cleft palate OMIM:311895
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Burning Mouth Syndrome
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Impaired tem... ORPHA:353253
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... ORPHA:276580
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b... OMIM:613641
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type I diabetes me... ORPHA:276575
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum ORPHA:46
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hypoglycemia, Leucine-Induced
Irritability, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly OMIM:309545
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Abnormality of the vestibulocochlear nerve... OMIM:601369
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Summitt Syndrome
Obesity OMIM:272350
Huntington Disease
Decreased body mass index, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Dep... ORPHA:399
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Functional abnormality of the inner ear, Dysesthesia, Cranial nerve ... ORPHA:268882
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Irritability, Disinhibition, Inappropriate laughter, Polyphagia OMIM:600274
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Marcus-Gunn Syndrome
Cleft lip, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Narrow mouth ORPHA:2528
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, High palate OMIM:300983
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Gómez-López-Hernández Syndrome
Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion ORPHA:1532
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Narcolepsy Type 1
Obesity ORPHA:2073
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Superficial Siderosis
Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Unsteady gait, Dysmetri... ORPHA:247245
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Brad... OMIM:300894
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy, Short philtrum OMIM:300928
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Cough, Inability to walk, Abnormal posturing, Opisthoton... ORPHA:216866
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Dysphagia, Gait ataxia, Hand tremor, Atrophy/Degeneration a... OMIM:617862
Non-Distal Duplication 10Q
Frontal bossing, Everted lower lip vermilion, High palate, Brachycephaly ORPHA:1695
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth m... ORPHA:1387
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Downturned corn... OMIM:617752
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Potocki-Shaffer Syndrome
Turricephaly, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum OMIM:601224
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Thick vermilion border, Optic atrophy, Self-injurious behavior OMIM:619690
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... OMIM:128100
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
9q subtelomeric deletion syndrome
Midface retrusion, Protruding tongue DECIPHER:52
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia OMIM:222100
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Ravine Syndrome
Ataxia, Apnea, Anorexia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atro... ORPHA:99852
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Hartnup Disorder
Glossitis OMIM:234500
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Deep philtrum, Brachycephaly OMIM:618859
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Impulsivity, Chorea, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysph... ORPHA:216873
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... OMIM:620065
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia OMIM:615986
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Hyperesthesia ORPHA:137596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Spinocerebellar Ataxia Type 1
Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal brainste... ORPHA:98755
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Pulmonary Blastoma
Weight loss ORPHA:64741
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Tuberculosis
Weight loss ORPHA:3389
Potocki-Shaffer Syndrome
Downturned corners of mouth, Short philtrum, Brachycephaly, Parietal foramina ORPHA:52022
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Obesity, Hypogonadism, Skin-picking... OMIM:615547
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... OMIM:619150
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait atax... OMIM:609425
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... ORPHA:3241
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp... ORPHA:206448
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Sudden episodi... ORPHA:3095
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Optic atrophy, Gingival overgrowth, Dysphagia, Choreoathetosis, High palate, Bilateral se... OMIM:619422
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Intrauterine growth retardatio... OMIM:620270
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cebalid Syndrome
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac... OMIM:618774
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Broad phi... OMIM:618577
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Irritability, Gait distu... ORPHA:306682
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... OMIM:604757
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tr... OMIM:607454
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-c... ORPHA:263455
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Thin vermilion border, Widely spaced te... ORPHA:487825
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... OMIM:300942
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition OMIM:618603
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil... OMIM:616789
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft palate, Short ph... OMIM:619504
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Akinesia, Optic neuropathy, Optic a... OMIM:618249
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Brachycephaly ORPHA:320385
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Periventricular heterotopia, Macrotia, Self-biting, Recur... OMIM:300624
8Q12 Microduplication Syndrome
Long philtrum, Everted lower lip vermilion, Brachycephaly, Narrow mouth ORPHA:228399
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Oculomotor apraxia, Ataxia OMIM:617121
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Brachycephaly, High palate OMIM:615828
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Tented upper lip vermilion, Optic atrophy, Gait ataxia, Prominent antihelix, Hy... OMIM:617807
Perry Syndrome
Akinesia, Depression, Bradykinesia, Weight loss, Inappropriate behavior, Disinhibition, Short ste... OMIM:168605
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Perisylvian polymi... OMIM:619121
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocephaly OMIM:615433
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Microdontia OMIM:617364
Pierpont Syndrome
Smooth philtrum, Brachycephaly, Prominent median palatal raphe, Thin vermilion border, Widely spa... OMIM:602342
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Re... OMIM:615838
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Dental crowding, Brachycephaly OMIM:615031
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Impaired vibratory sensation, Intestinal pseudo-obstruction, Aganglionic meg... OMIM:243180
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... OMIM:612469
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation, Decreased body weight OMIM:614063
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum OMIM:608027
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia OMIM:616831
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
2Q32Q33 Microdeletion Syndrome
Dental crowding, Brachycephaly, Cleft palate, Oligodontia, Thin vermilion border, High palate, Na... ORPHA:251019
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
German Syndrome
Brachycephaly, Orofacial cleft, Everted lower lip vermilion, High palate, Dolichocephaly, Open mo... ORPHA:2077
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clon... OMIM:617435
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Apnea, Episodic tac... ORPHA:79264
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Inab... ORPHA:72
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Bradykinesia, Falls, Gait imb... ORPHA:240094
Whistling Face Syndrome, Recessive Form
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia, Midface retrusion OMIM:277720
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic atrophy, Narrow pal... ORPHA:313892
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Short philtrum, Dol... OMIM:618672
Joubert Syndrome 7
Encephalocele, Central apnea, Ataxia, Brainstem dysplasia, Episodic tachypnea, Oculomotor apraxia... OMIM:611560
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Thick vermilion border, Abnormal temper tantrums, Abnormal ... ORPHA:530983
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Dental crowding, Brachycephaly, Downturned corners of mouth, Long philt... OMIM:615761
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Intellectual Developmental Disorder, Autosomal Dominant 26
Deep philtrum, Brachycephaly, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth OMIM:615834
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palat... ORPHA:1790
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... OMIM:606407
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... OMIM:619911
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Sensorineural ... OMIM:618342
Muenke Syndrome
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Coronal craniosynostosis, Midface... OMIM:602849
Cerebrooculonasal Syndrome
Brachycephaly, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long ... ORPHA:66625
Macroglossia
Macroglossia OMIM:153630
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, High palate, Long philtrum, Midfac... OMIM:615539
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth, High palate, Smooth philtrum OMIM:300590
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy OMIM:274270
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Brachycephaly OMIM:616083
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Limb ataxia, Self-injurious ... OMIM:617695
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Postencephalitic Parkinsonism
Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Oculogyric... ORPHA:97349
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity ORPHA:3055
Grant Syndrome
Open bite, Frontal bossing, Brachycephaly, Abnormal palate morphology ORPHA:2097
Pseudodiastrophic Dysplasia
Frontal bossing, Brachycephaly, Smooth philtrum, Midface retrusion OMIM:264180
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly ORPHA:352530
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... ORPHA:289560
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Desanto-Shinawi Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Brachycephaly, Midface retrusion OMIM:616708
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,... OMIM:123450
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Narrow palate, Multiple suture craniosynostosis, Mi... ORPHA:207
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Brachycephaly, Cleft palate, Oligodontia, High palate OMIM:600325
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Open mouth, Short philtrum, Optic nerve hypoplasia ORPHA:228384
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Brachyturricepha... OMIM:218350
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Dental crowding OMIM:619264
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Juvenile Huntington Disease
Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia ORPHA:248111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Thin upper lip vermilion, Brachycephaly, Smooth philtrum OMIM:615419
Craniofrontonasal Dysplasia
Frontal bossing, Craniosynostosis, Abnormality of the dentition, Brachycephaly, Orofacial cleft, ... ORPHA:1520
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, Dysmetria, ... OMIM:617302
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, High palate, Skull asymmetr... OMIM:601853
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Facial palsy, Dysphagia, Sensorineural hearing impairment OMIM:158900
Lujan-Fryns Syndrome
Dental crowding, Abnormality of the dentition, Brachycephaly, High palate, Short philtrum ORPHA:776
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Turricephaly, Brachycephaly, Cleft palate ORPHA:2145
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Nephronophthisis 15
Obesity OMIM:614845
Even-Plus Syndrome
Brachycephaly, High palate, Hypodontia, Midface retrusion, Anal atresia OMIM:616854
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Bifid uvula, Cleft palate, Cleft upper lip OMIM:300958
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa... OMIM:614299
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b... OMIM:618917
Cornelia De Lange Syndrome 5
Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Wid... OMIM:300882
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Ataxia, Oculomotor apraxia, Hypertonia, Molar tooth s... OMIM:612291
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... ORPHA:2198
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia ORPHA:363400
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Aglossia OMIM:241310
Idiopathic Achalasia
Weight loss ORPHA:930
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Flat occiput, Dolichocephaly, Brachycephaly, Downturned corners of mout... OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation OMIM:616116
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Downturned corners of mouth, Self-injurious behavior, Low-set e... OMIM:618718
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Tented upper lip vermilion, Brachycephaly, Smooth philtrum OMIM:620240
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congen... OMIM:614450
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Apnea, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxi... OMIM:617903
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Thin upper lip vermilion, Frontal bossing, Brachycephaly, Plagiocephaly, Short philtrum, Open mou... OMIM:616801
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n... ORPHA:3299
Joubert Syndrome 1
Central apnea, Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Brainstem dysplasia, E... OMIM:213300
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Abnormal palate morphology ORPHA:93262
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Thick vermilion border, Brachycephaly ORPHA:85290
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Thick lower lip vermilion, Gingival overg... OMIM:179613
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly OMIM:618862
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Brachycephaly, Downturned ... OMIM:618430
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Coronal craniosynost... ORPHA:228390
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Increased body weight, Absence of pubertal d... ORPHA:398069
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly, Anal atresia ORPHA:93950
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 7
Thin upper lip vermilion, Hyperactivity, Ataxia, Abnormal pinna morphology, Thick lower lip vermi... OMIM:614104
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Optic nerve hypoplasia, Dysphagia, Pachygyria, Abnormal repetitive mannerisms ORPHA:572013
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth OMIM:618797
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms OMIM:615282
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha... OMIM:603116
Fetal Trimethadione Syndrome
High palate, Brachycephaly, Midface retrusion ORPHA:1913
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mouth, Plagiocephaly, High palate,... ORPHA:369891
Foxg1 Syndrome
Dystonia, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Hyperkineti... ORPHA:561854
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Dental malocclusion, Brachycephaly, Downturned corners... ORPHA:1327
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, T... ORPHA:101085
Muenke Syndrome
Plagiocephaly, High, narrow palate, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Thick lower lip vermilion, Prominent median pa... OMIM:300602
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Joubert Syndrome 40
Molar tooth sign on MRI, Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Bradykinesia, Agitation,... ORPHA:411602
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom... ORPHA:220497
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Dysmetria, Cleft palate, Glosso... OMIM:618356
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression ORPHA:276630
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Midface retrusion, High palate, Narrow mouth, Brachyturricephaly, Dent... OMIM:613849
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Dental malocclusion, Macrotia, Abnormal repe... OMIM:615541
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... OMIM:123500
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Rett Syndrome
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic ner... ORPHA:778
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Brachycephaly, Thin vermilion border, Long philtrum ORPHA:171839
Joubert Syndrome 25
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Hydrocephalus,... ORPHA:2318
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Joubert Syndrome 2
Encephalocele, Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, At... OMIM:608091
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Babinski sign, Spastic dysarthria, Difficulty walking, Dystoni... ORPHA:280763
Huntington Disease-Like 2
Bradykinesia, Weight loss OMIM:606438
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Acrofrontofacionasal Dysostosis
Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High palate, Mid... ORPHA:1784
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Dolichocephaly, Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion OMIM:619721
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Ataxia, Facial palsy, Hearing impairment, Sensorineural hearing impairment, Dysph... OMIM:211530
Perlman Syndrome
Hyperinsulinemia, Tall stature ORPHA:2849
Kury-Isidor Syndrome
Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Lon... OMIM:619762
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Xq28 (MECP2) duplication
Brachycephaly, Narrow mouth DECIPHER:45
Meckel Syndrome 13
Occipital encephalocele, Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Brachycephaly, Macroglossia, Everte... OMIM:610253
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Inability to walk, Simplified gyral pattern, Wide mouth, Widely spaced ... OMIM:619877
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Frontal bossing, Midface retrusion, Cleft palate ORPHA:440354
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Optic atrophy, A... ORPHA:87
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, High, narrow palate, Brachycephaly, Wide mouth, Abnormal upper lip morphology, Abno... ORPHA:2707
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... OMIM:157980
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil... ORPHA:163649
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
Joubert Syndrome 20
Aggressive behavior, Inability to walk, Oculomotor apraxia, Respiratory insufficiency, Molar toot... OMIM:614970
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Dysphagia... ORPHA:251061
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Orofaciodigital Syndrome Xix
Frontal bossing, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, Carious teeth, Narro... OMIM:620107
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Monosomy 18P
Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodont... ORPHA:1598
Angelman Syndrome
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth OMIM:105830
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Smith-Magenis Syndrome
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... OMIM:182290
Joubert Syndrome 36
Molar tooth sign on MRI, Open mouth, Sensorineural hearing impairment OMIM:618763
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dysphagia, Dystonia, Spasticity OMIM:304700
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykine... ORPHA:225147
Trisomy 5P
Obesity ORPHA:1742
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis... ORPHA:3201
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Downturned corners of mouth, High... OMIM:613174
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Hypoplasia of the pons, Prominent ear helix, Inability to walk, Large e... ORPHA:411986
Biemond Syndrome Type 2
Obesity ORPHA:141333
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Widely spaced teeth, Low-set ... OMIM:619092
Igg4-Related Ophthalmic Disease
Sialadenitis, Colon cancer, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital... ORPHA:449563
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Frontal bossing, Pierre-Robin sequence, Glossoptosis, High palate, Open... OMIM:613604
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... OMIM:609136
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social int... OMIM:156200
Chronic Hiccup
Weight loss ORPHA:396
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Breathing dysregulation, Oculomot... OMIM:610688
Distal Deletion 10Q
Thin upper lip vermilion, Ataxia, Aggressive behavior, Congenital sensorineural hearing impairmen... ORPHA:96148
Aica-Ribosuria Due To Atic Deficiency
Wide mouth, Thin upper lip vermilion, Frontal bossing, Brachycephaly OMIM:608688
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Babinski sign, D... OMIM:612069
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... OMIM:609583
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosis, Dystonia OMIM:612716
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Tremor, Oculom... ORPHA:220493
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Unilateral cleft lip, Brachycephaly ORPHA:2511
Larsen-Like Syndrome
Frontal bossing, Dental malocclusion, Brachycephaly, Cleft palate OMIM:608545
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Brachycephaly, High palate, Short philtrum ORPHA:3306
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Isaacs Syndrome
Weight loss ORPHA:84142
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Morm Syndrome
Truncal obesity ORPHA:75858
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Joubert Syndrome 33
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Apnea OMIM:617767
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Large for gestational age, Thick lower lip verm... ORPHA:137634
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Jerky head movements, Dysphagia ORPHA:240103
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Frontal bossing, Brachycephaly, Long philtrum OMIM:608776
Pettigrew Syndrome
Aggressive behavior, Aqueductal stenosis, Sensorineural hearing impairment, Optic atrophy, Gait a... OMIM:304340
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly OMIM:607597
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... OMIM:618644
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Narrow mouth, Repetitive compulsive behavior, Short philtrum, Compulsive behaviors... ORPHA:352490
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Brachycephaly, To... ORPHA:1798
Secondary Short Bowel Syndrome
Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Polyphagia ORPHA:95427
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Mental deterioration, Obesity, Abnormality of neuronal migrat... ORPHA:163681
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Anorexia, Tremor, Opisthotonus, ... ORPHA:79139
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Intestinal malrotation, Dilatated internal auditory canal... OMIM:113650
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Long ... ORPHA:83
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Apnea, Episodic tachy... ORPHA:475
Usher Syndrome Type 1
Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor... ORPHA:231169
Joubert Syndrome 30
Cerebellar atrophy, Apnea, Tachypnea, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... OMIM:617622
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... ORPHA:95433
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Brachycephaly, Cleft palate, Dow... ORPHA:404440
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Inability to walk, Downturned corners of mouth, Lobulated tongue, Short... OMIM:613443
Morbid Obesity And Spermatogenic Failure
Obesity OMIM:615703
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Diaphragmatic paralysis, Degeneration of anterior... OMIM:604320
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Aggressive behavior, Wide mouth, ... OMIM:618825
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss ORPHA:178029
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... ORPHA:2780
Williams-Beuren Region Duplication Syndrome
Diastema, Brachycephaly, High palate, Short philtrum OMIM:609757
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypoesthesia, Sensorineural hearing impairment, ... OMIM:619737
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Perisylvian polymicrogyria, An... ORPHA:280195
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina... ORPHA:85199
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pfeiffer Syndrome Type 1
High palate, Brachycephaly, Bicoronal synostosis, Midface retrusion ORPHA:93258
Joubert Syndrome 3
Central apnea, Cerebellar vermis hypoplasia, Ataxia, Episodic tachypnea, Oculomotor apraxia, Mola... OMIM:608629
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Tented upper lip vermilion, Ataxia, Hyperactivity, Chorea, Perisylv... OMIM:615673
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Lelis Syndrome
Carious teeth, Midface retrusion, Hypodontia, Furrowed tongue ORPHA:140936
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... ORPHA:35069
Full Schwannomatosis
Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Paresthesia, Ti... ORPHA:93921
Trisomy 9P
Dental crowding, Non-midline cleft lip, Brachycephaly, Impacted tooth, Downturned corners of mouth ORPHA:236
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactiv... OMIM:618906
Mulibrey Nanism
Cachexia ORPHA:2576
Stevenson-Carey Syndrome
Downturned corners of mouth, Pierre-Robin sequence, Brachycephaly, Narrow mouth OMIM:611961
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Hydrocephalus... OMIM:614424
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Simp... ORPHA:300570
Spinocerebellar Ataxia 48
Gait ataxia, Ataxia, Cachexia, Dysmetria OMIM:618093
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Ataxia, Dental crowding, Impulsivity, Aggressive behavior, High, narrow... OMIM:619312
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Al Kaissi Syndrome
Thin upper lip vermilion, Macrodontia, High, narrow palate, Brachycephaly, Long philtrum, Smooth ... OMIM:617694
Gorlin Syndrome
Carious teeth, Frontal bossing, Brachycephaly, Abnormality of the sense of smell ORPHA:377
Cleidocranial Dysplasia
Delayed eruption of teeth, Frontal bossing, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1452
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Thick ... OMIM:618027
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Short philtrum,... OMIM:619244
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Coffin-Siris Syndrome 6
Posteriorly rotated ears, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Tics,... OMIM:617808
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Christianson Syndrome
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Apl... ORPHA:85278
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Holzgreve Syndrome
Turricephaly, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Brachycephaly, Dolichocephaly ORPHA:272
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Cleft palate, Widely spaced teeth, Trigo... ORPHA:459061
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity, Delayed puberty ORPHA:251004
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Protruding tongue, Brachycephaly, Downturned corners of mouth, Macroglossia, Everte... ORPHA:96147
Orofaciodigital Syndrome V
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Idiopathic Intracranial Hypertension
Abnormal emotion, Obesity, Depression ORPHA:238624
Developmental And Epileptic Encephalopathy 64
Thin upper lip vermilion, Inability to walk, Chorea, Thick lower lip vermilion, Bruxism, Self-inj... OMIM:618004
Juvenile Sialidosis Type 2
Ataxia, Protruding tongue, Optic atrophy, Gingival overgrowth, Dysmetria, Low-set ears, Dysphagia... ORPHA:93399
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... ORPHA:765
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Short stature, Chorea, Athetosis, Dystonia, Self-mu... ORPHA:52503
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... OMIM:614701
Ritscher-Schinzel Syndrome 4
Brachycephaly, Narrow palate, Wide mouth, Plagiocephaly, Thick vermilion border, High palate, Sho... OMIM:619435
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation ORPHA:251028
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Patent ductus arteriosus, Hypoplasia of the brai... OMIM:617751
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Brachycephaly, Lambdoidal craniosynostosis OMIM:618736
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, Tongue thrusting,... OMIM:619580
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Beck-Fahrner Syndrome
Open mouth, High palate, Brachycephaly, Long philtrum OMIM:618798
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Brachycephaly, Wide mouth, Thin ve... OMIM:212066
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, ... OMIM:216360
Mulibrey Nanism
Frontal bossing, Dental crowding, Dental malocclusion, Hypodontia, Dolichocephaly, Microglossia, ... OMIM:253250
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... ORPHA:2563
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Brachycephaly OMIM:618142
Ritscher-Schinzel Syndrome 1
Prominent occiput, Anal atresia, Brachycephaly, Cleft palate OMIM:220210
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Cough, A... OMIM:610978
Charge Syndrome
Aqueductal stenosis, Hypoplasia of the semicircular canal, Compulsive behaviors, Low-set, posteri... ORPHA:138
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea, Hydrocephalus, A... ORPHA:163961
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Macrodonti... ORPHA:364028
Raine Syndrome
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Brachycephaly, Wide mouth, Pla... OMIM:259775
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Abnormal repetitive mannerisms OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Frontal bossing, Dental crowding, Brachycephaly, Narrow palate, High pa... OMIM:616078
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Brachycephaly, Anteriorly placed anus, Widely-spaced maxillary central in... OMIM:608980
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Brachycephaly, Plagiocephal... ORPHA:261652
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Flat occiput, Brachycephaly, High palate, Long philtrum OMIM:617452
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Dental crowding, Brachycephaly, Plagiocephaly, Short philtrum OMIM:617296
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... ORPHA:96121
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Craniosynostosis ORPHA:531151
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... ORPHA:293987
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... ORPHA:411511
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Proportio... ORPHA:528
Potocki-Lupski Syndrome
Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Dental malocclusion, Wide mouth, High ... OMIM:610883
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Cleft palate, Cleft upper lip OMIM:268850
Immunodeficiency 61
Obesity OMIM:300310
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Tented upper lip vermilion, Dental crowding, Cleft upper lip, Brachycephaly, Hig... OMIM:612582
Aceruloplasminemia
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary mov... ORPHA:48818
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell hyperplasia... OMIM:246200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:620292
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Hyperactivity, Optic nerve hypoplasia, Wide mouth, Widely-spaced maxill... ORPHA:363686
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
White-Sutton Syndrome
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hypoplasi... ORPHA:468678
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, High, narrow palate, Incisor macrodontia, Dysphagia, P... ORPHA:166108
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly, Smooth philtrum OMIM:618828
Frontofacionasal Dysplasia
Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion ORPHA:1791
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Pain insensitivity, Dental crowding, Aggressive behavior, Patent ductus... OMIM:617061
Achondrogenesis, Type Ii
Frontal bossing, Brachycephaly, Cleft palate, Long philtrum OMIM:200610
Adenylosuccinase Deficiency
Thin upper lip vermilion, Brachycephaly, Wide mouth, Long philtrum, Smooth philtrum OMIM:103050
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Cleft palate, Downturned corners of mouth, Long philtrum, U-Shaped upper lip vermi... OMIM:301041
Seckel Syndrome 2
Microdontia, Microglossia OMIM:606744
Smith-Magenis Syndrome
Frontal bossing, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, ... ORPHA:819
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Brachycephaly OMIM:218000
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Plagiocephaly, High ... OMIM:618106
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity ORPHA:589905
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... ORPHA:93256
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Dolichocephaly, Brachycephaly, Macroglossia, High palate, Narrow mouth,... ORPHA:357001
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Depression, Increased circulating ... OMIM:615830
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Acrofrontofacionasal Dysostosis 2
High palate, Brachycephaly OMIM:239710
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Mehmo Syndrome
Obesity ORPHA:85282
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Narrow mouth, Midfac... OMIM:300260
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Joubert Syndrome 15
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Exencephaly OMIM:614464
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Agitation, Myoclonus, Abnormality ... ORPHA:43116
Marshall Syndrome
Thickened calvaria, Frontal bossing, Abnormality of the dentition, Thick lower lip vermilion, Bra... ORPHA:560
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow mouth, Microglossia,... ORPHA:990
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Abnormality of the dentition, Deep philtrum, Brachycephaly, Downturned corners of mouth, High pal... OMIM:615398
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Flat occiput, Brachycephaly, High palate, Long philtrum ORPHA:505237
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Brachycephaly, Cl... ORPHA:435638
Joubert Syndrome 10
Molar tooth sign on MRI, Deep philtrum, Thick vermilion border, Low-set ears OMIM:300804
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Pursed lips, Brachycephaly, High palate, Narrow mouth, Smooth philtrum, Long philtrum ORPHA:562528
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Oculomotor apraxia, Ataxia OMIM:617757
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Hypoplasia of the po... OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Obesity, Choreoathetosis, Bradykinesia, Male hypogonadism, Shuffling gait, ... OMIM:300055
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Dental crowding, Dental malocclusion, Brachycephaly, ... OMIM:257850
Laurence-Moon Syndrome
Obesity OMIM:245800
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Decreased cir... ORPHA:453533
Stankiewicz-Isidor Syndrome
Hyperactivity, Patent ductus arteriosus, Abnormal optic disc morphology, Low-set ears, Hearing im... OMIM:617516
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Patent ductus arte... ORPHA:500159
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Dystonia, Ataxia, Recurre... ORPHA:496641
Spinocerebellar Ataxia Type 36
Tongue atrophy, Ataxia, Vertigo, Limb ataxia, Dysmetria, Dysphagia, Tongue fasciculations, Diffic... ORPHA:276198
Biotinidase Deficiency
Ataxia, Apnea, Tachypnea, Optic atrophy, Diffuse cerebellar atrophy OMIM:253260
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Trigonocephaly, Cleft... OMIM:619148
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Tented upper lip vermilion, Impaired pain sensation, Gait ataxia, High ... OMIM:616579
48,Xxyy Syndrome
Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Carious teeth, T... ORPHA:10
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Brachycephaly OMIM:619995
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Oculomotor apraxia, Molar tooth sign on MRI OMIM:612285
Cerebrooculonasal Syndrome
Frontal bossing, Proboscis, Craniosynostosis, Brachycephaly, Narrow palate, Cleft palate, Downtur... OMIM:605627
Joubert Syndrome 31
Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia OMIM:617761
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Brachycephaly, Coronal craniosynostosis, Abnormality of the dentition ORPHA:2095
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Huntington Disease-Like 3
Abnormal head movements, Chorea, Broad-based gait, Progressive gait ataxia ORPHA:157946
Joubert Syndrome 18
Lobulated tongue, Cleft palate OMIM:614815
Hyperphosphatasia-Intellectual Disability Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Brachycephaly, Anteriorly placed anus, Downtur... ORPHA:247262
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Agenesis of ... OMIM:243910
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Dan... OMIM:225790
Joubert Syndrome 27
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Gait ataxia OMIM:617120
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
4Q21 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Self-injurious behavior, Thin vermilio... ORPHA:238750
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Trisomy 20P
Smooth philtrum, Frontal bossing, Abnormality of the dentition, Brachycephaly, Downturned corners... ORPHA:261318
Coach Syndrome 2
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Apneic episodes in infancy, Mola... OMIM:619111
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Brachycephaly, Wide mouth, Biparietal narrowing, Long philtrum ORPHA:1292
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Selective tooth agenesis, Dolichocephaly, High, narrow palate, Supe... OMIM:234100
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal... OMIM:614188
Ogden Syndrome
Abnormal head movements, Everted upper lip vermilion, High, narrow palate, Shuffling gait, Low-se... ORPHA:276432
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices... OMIM:300352
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment... ORPHA:66634
Baralle-Macken Syndrome
Obesity OMIM:619255
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Brachycephaly, Lambdoidal craniosynostosis, Long philtrum, Coronal craniosynosto... OMIM:207410
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Narrow palate, Recurrent hand flapping, Self-m... OMIM:615516
Acrodysostosis
Delayed eruption of teeth, Open bite, Brachycephaly, Open mouth, Midface retrusion ORPHA:950
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Temple Syndrome
Overweight, Truncal obesity, Small for gestational age, Obesity OMIM:616222
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper tantrums, Attent... ORPHA:404448
Pde4D Haploinsufficiency Syndrome
Thin upper lip vermilion, Frontal bossing, Abnormal dental enamel morphology, Brachycephaly, Shor... ORPHA:439822
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Akinesia OMIM:619334
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings, Inability to... ORPHA:99956
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Cleft lip, Obesity, Cleft palate, Downturned corners of mouth, Microtia... OMIM:618089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Lethargy, Failure... ORPHA:71212
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Downturned corners ... OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Wide mouth, Self-injurious behavior, High palate, Thick vermilion bo... OMIM:300986
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Cooper-Jabs Syndrome
Anteriorly placed anus, Frontal bossing, Brachycephaly ORPHA:1488
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Widely spaced teeth, Bruxism, Abnormal repetitive mannerisms, Smooth philtrum, ... OMIM:616351
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly, Smooth philtrum OMIM:263210
Treacher-Collins Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, ... ORPHA:861
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Truncal obesity, Incre... OMIM:219080
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia ORPHA:363717
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Depression, Gait disturbance, ... ORPHA:457240
Frontonasal Dysplasia 2
Craniosynostosis, Conical tooth, Parietal foramina, Calvarial skull defect, Brachycephaly, Widely... OMIM:613451
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Downturned corner... OMIM:617865
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Unilateral Polymicrogyria
Apnea, Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine motor coordi... ORPHA:268943
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Att... OMIM:618205
19P13.12 Microdeletion Syndrome
Craniosynostosis, Brachycephaly, Cleft palate, Thin vermilion border, Hypodontia, Long philtrum ORPHA:254346
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Benign Schwannoma
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwanno... ORPHA:252164
Laurence-Moon Syndrome
Brachycephaly ORPHA:2377
Alazami Syndrome
Abnormal eating behavior, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth... ORPHA:319671
Sweeney-Cox Syndrome
Midface retrusion, Flat occiput, Velopharyngeal insufficiency, Brachycephaly, High palate, Short ... OMIM:617746
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Narcolepsy 7
Obesity OMIM:614250
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Midface retrusion, Broad philtrum ORPHA:1394
Moynahan Syndrome
Cachexia ORPHA:2574
Ring Chromosome 22 Syndrome
Thick vermilion border, Midface retrusion, Dolichocephaly, Protruding tongue ORPHA:1446
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus ... OMIM:608594
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Skull asymmetr... OMIM:612938
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Triangular mouth ORPHA:166024
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Brachycephaly, Narrow mouth OMIM:219150
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Brachyturrice... ORPHA:314621
Lig4 Syndrome
Thin vermilion border, Brachycephaly, Biparietal narrowing, Malabsorption ORPHA:99812
Chung-Jansen Syndrome
Obesity OMIM:617991
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Ankle clonus, Spasticity ORPHA:247525
Congenital Disorder Of Glycosylation, Type Iit
Thick vermilion border, Tented upper lip vermilion, Short philtrum, Brachycephaly OMIM:618885
Trisomy 8Q
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... ORPHA:1752
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, Brachycephaly, Cleft palate, High palate, Long philtrum OMIM:156610
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Exaggerated cupid's bow, Posteriorly rotated ears, Aqueductal stenosis, Narrow mou... OMIM:619512
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Neurogenic bladder, Short stature, Ataxia, Postnatal growth retarda... ORPHA:96180
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Thin upper lip vermilion, Ataxia, Carious teeth, Obesity, Protruding ear, Large earlobe, High pal... OMIM:620191
Warburg Micro Syndrome 4
Long philtrum, Brachycephaly, Narrow mouth OMIM:615663
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Tented upper lip vermilion, Ataxia, Aggressive behavior, Bulimia, Self-biting, Dow... OMIM:300912
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Abnormal cerebellum morphology, Ocu... ORPHA:397715
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Broad-based gait, Downturned corners of mouth, Wide mouth, Everted lowe... OMIM:618067
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Abnormal cerebellum morphology,... ORPHA:86309
Galloway-Mowat Syndrome 6
Downturned corners of mouth, Wide mouth, High palate, Microdontia, Abnormal repetitive mannerisms... OMIM:618347
Baller-Gerold Syndrome
Frontal bossing, Malabsorption, Brachycephaly, Cleft palate, Anteriorly placed anus, High palate,... ORPHA:1225
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Apert Syndrome
Delayed eruption of teeth, Sagittal craniosynostosis, Craniosynostosis, Esophageal atresia, Pylor... OMIM:101200
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mou... OMIM:610759
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Depression, Bradykinesia, Abnormal synaptic transmission, Falls, Dysp... ORPHA:683
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... OMIM:618161
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Dysdiadocho... OMIM:610217
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Chromosome 2P16.1-P15 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Brachycephaly, Everted lower lip vermilion, High p... OMIM:612513
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, High palate OMIM:615637
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Wagr Syndrome
Obesity ORPHA:893
Pfeiffer Syndrome
Cloverleaf skull, Dental crowding, High palate, Coronal craniosynostosis, Brachyturricephaly OMIM:101600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Hamamy Syndrome
Thin upper lip vermilion, Craniosynostosis, Dental malocclusion, Brachycephaly, Wide mouth, Evert... OMIM:611174
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormality of the dentition, Aggressive behavior, Thin vermilion border, Macrotia... ORPHA:391307
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly ORPHA:70472
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Failure to thrive, Hypothyroidism, Akinesia OMIM:619147
Retinitis Pigmentosa 51
Obesity OMIM:613464
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Dental crowding, High, narrow palate, Thick lower lip vermilion, Brachycephaly, Cleft palate, Sho... OMIM:309583
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebella... ORPHA:468631
Cree Mental Retardation Syndrome
Brachycephaly, Cleft soft palate OMIM:606851
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Neonatal respiratory distress, Akinesia, Hand tremor, Restrictive ventilatory ... OMIM:618947
Craniodigital-Intellectual Disability Syndrome
Brachycephaly ORPHA:1514
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Cleft palate, Narrow mouth OMIM:202650
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II... OMIM:269700
Contractural Arachnodactyly, Congenital
Frontal bossing, Scaphocephaly, Brachycephaly, High palate, Dolichocephaly OMIM:121050
Joubert Syndrome 23
Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
Rafiq Syndrome
Truncal obesity, Obesity OMIM:614202
Carpenter Syndrome 1
Sagittal craniosynostosis, Persistence of primary teeth, Brachycephaly, Agenesis of permanent tee... OMIM:201000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Brachycephaly, Cleft palate OMIM:616897
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Focal Myositis
Weight loss ORPHA:48918
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
48,Xxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Brachycep... ORPHA:96263
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Ina... ORPHA:98794
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Somatic sensory dysfunction, Aggressive behavior, Progressive ... ORPHA:43
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Cleft palate, Orofacial cleft,... OMIM:601701
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Morgagni-Stewart-Morel Syndrome
Memory impairment, Obesity, Cognitive impairment, Depression ORPHA:77296
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Abnormality of the dentition, High, narrow palate, Supernumerary to... ORPHA:2108
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Overweight, Mental deterioration, Obesity, Memory impairment, Lateral ventr... ORPHA:2822
Warburg Micro Syndrome 3
Downturned corners of mouth, Brachycephaly, Narrow palate OMIM:614222
Schwannomatosis, Vestibular
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... OMIM:101000
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Coach Syndrome 3
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia OMIM:619113
Spinocerebellar Ataxia 36
Tongue atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Tongue fasciculations, Truncal ataxi... OMIM:614153
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormality of taste sensation, Restlessness, Abnormal medulla oblongata mor... ORPHA:68
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Tented philtrum, Brachycephaly, Gingival overgrowth, Abnormal oral fr... ORPHA:363659
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Tented upper lip vermilion, Optic atrophy, Short philtrum, Everted lower lip vermi... OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Dysphagia,... OMIM:617802
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Thick lower lip vermilion, Submucous cleft hard palate, Head-banging, Wide ... OMIM:619103
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w... ORPHA:905
Uruguay Faciocardiomusculoskeletal Syndrome
Everted lower lip vermilion, Thick vermilion border, Brachyturricephaly OMIM:300280
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
49,Xxxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Brachycep... ORPHA:96264
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Pyloric stenosis,... ORPHA:261494
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Brachycephaly, Long philtrum OMIM:614800
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturban... ORPHA:168491
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... OMIM:615300
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Conical tooth, Supernumerary tooth, Sensorineural hearing impairment, Aplasia... ORPHA:90024
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Neonatal breathing dysregulation, Agenesis of cerebellar ... OMIM:610188
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Increased ove... OMIM:618504
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mouth, Plagioceph... OMIM:618268
Acromelic Frontonasal Dysplasia
Wide mouth, Brachycephaly, Median cleft lip, Median cleft palate ORPHA:1827
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia... ORPHA:453499
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Open bite, Deep philtrum, Brachycephaly, Wide mouth, Everted lower lip vermilion... ORPHA:1974
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... ORPHA:1358
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number... OMIM:256800
Faciocardiorenal Syndrome
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum ORPHA:1973
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Distal Deletion 3P
Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Lon... ORPHA:1620
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, High, narrow palate, Brachycephaly, Plagiocephaly, Everted lower lip vermilion, Hig... OMIM:613776
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Dysphagia OMIM:613327
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
22Q11.2 Duplication Syndrome
Cleft palate, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:1727
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Patent ductus arteriosus, Unstead... OMIM:606232
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Ataxia, Anorexia ORPHA:79242
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Fucosidosis
Brachycephaly, Abnormality of the dentition ORPHA:349
Weaver Syndrome
Overgrowth, Polyphagia OMIM:277590
High Altitude Pulmonary Edema
Orthopnea, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Lip pit, Brachycephaly, Hypodontia, Abnormal palate morphology ORPHA:1236
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Tarp Syndrome
Posteriorly rotated ears, Optic atrophy, Cleft palate, Tongue nodules, Prominent antihelix, Athet... OMIM:311900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Thin upper lip vermilion, Hyperactivity, Gait ataxia, Short philtrum, Macrotia, Abnormal repetiti... OMIM:300486
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Brachycephaly, Wide mouth, Posterior plagiocephaly, Duodenal atresia OMIM:617798
Megalencephaly
Truncal obesity ORPHA:2477
Progressive Non-Infectious Anterior Vertebral Fusion
Wide mouth, Thin vermilion border, Short philtrum, Brachycephaly ORPHA:2062
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Carious teeth, Brachycephaly, Widely spaced teeth... OMIM:619229
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Dentinogenesis imperfecta OMIM:610968
Houge-Janssens Syndrome 3
Self-injurious behavior, Hypoplasia of the brainstem, High palate, Short philtrum, Attention defi... OMIM:618354
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Oculomotor apraxia, Dandy-Walker malformation OMIM:614465
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tented upper lip vermilion, Short philtrum ORPHA:85277
Gerstmann-Straussler Disease
Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Truncal ataxia OMIM:137440
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... OMIM:252100
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Chorea, Tongue thrusting, Simplified gyral pattern, Protruding ear, Ath... OMIM:613454
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Biparietal narrowing ORPHA:2031
Saethre-Chotzen Syndrome
Craniosynostosis, Open bite, Brachycephaly, Cleft palate, Narrow palate, Plagiocephaly ORPHA:794
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Paraplegia, Agitation, Abnormal repetitive mannerisms ORPHA:927
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Abnorm... ORPHA:1051
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Mast Cell Sarcoma
Weight loss ORPHA:66661
Intellectual Developmental Disorder, Autosomal Dominant 66
Plagiocephaly, Brachycephaly OMIM:619910
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Craniosynostosis, Protruding tongue ORPHA:561
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, High palate, Attention deficit hype... OMIM:620242
Microtriplication 11Q24.1
Obesity ORPHA:289522
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Gingival overgrowth, Long philtrum, Abnormal repetitive mannerisms, Smooth philtrum OMIM:619428
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity ORPHA:96184
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia OMIM:201180
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Opisthotonus, Dysphagia, Neonatal death OMIM:608013
Branchioskeletogenital Syndrome
Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, Carious teeth, Submucous... ORPHA:1299
Intellectual Developmental Disorder, Autosomal Dominant 38
Tented upper lip vermilion, Ataxia, Aggressive behavior, Hair-pulling, Downturned corners of mout... OMIM:616393
Shox-Related Short Stature
Obesity ORPHA:314795
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Giant Cell Arteritis
Ataxia, Anorexia, Vertigo, Optic atrophy, Paresthesia, Conductive hearing impairment, Glossitis, ... ORPHA:397
9P13 Microdeletion Syndrome
High palate, Brachycephaly ORPHA:324313
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Micro... OMIM:263520
Supranuclear Palsy, Progressive, 2
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:609454
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, High palate, Everted lower lip vermilio... ORPHA:2479
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Everted ... ORPHA:261144
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Abnormality of the dentition, Brachycephaly, Cleft palate, Long philtrum, Bifid ... OMIM:300968
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Neurofaciodigitorenal Syndrome
Plagiocephaly, Brachycephaly, Abnormality of the philtrum, Abnormal oral mucosa morphology ORPHA:2673
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Distal Limb Deficiencies-Micrognathia Syndrome
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Martsolf Syndrome 1
Brachycephaly, High palate, Short philtrum, Long philtrum, Tooth malposition OMIM:212720
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Mednik Syndrome
Jejunal atresia, Sensorineural hearing impairment, Growth delay, Neonatal death, Volvulus, Microc... OMIM:609313
Follicular Lymphoma
Weight loss ORPHA:545
Fetal Akinesia Deformation Sequence
Dandy-Walker malformation, Respiratory insufficiency, Akinesia ORPHA:994
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Ataxia, Cleft palate, Compulsive behaviors, Attention deficit hyperactivity ... OMIM:615656
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Abnormality of the dentition, Brachycephaly, Narrow mo... OMIM:601088
Orofaciodigital Syndrome Xvi
Ataxia, Apnea, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI OMIM:617563
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Brachycephaly, Tracheoesophageal fistula OMIM:619859
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Woolly Hair Nevus
Enlarged vestibular aqueduct, Widely-spaced incisors ORPHA:79414
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, Dilated vestibule o... OMIM:611584
Frontofacionasal Dysplasia
Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Bifid uvula, Hypoplasia of th... OMIM:229400
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Joubert Syndrome 17
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Hyperventilation OMIM:614615
Perry Syndrome
Weight loss ORPHA:178509
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Abnormal repetitive mannerisms, Self-injurious behavior, High palate ORPHA:397612
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Patent ductus arteriosus, Abnormal brainstem morphology, Abnormality of neuron... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Narrow mouth, Brachycephaly, Everted lower lip vermilion, High palate, Long philtrum, Smooth phil... ORPHA:261349
Orofaciodigital Syndrome Type 6
Frontal bossing, Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobula... ORPHA:2754
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Brachyceph... OMIM:617925
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Microcephaly 26, Primary, Autosomal Dominant
Trigonocephaly, Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia ORPHA:93941
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... ORPHA:989
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Spastic tetraparesis, Inability to walk, Atroph... ORPHA:356961
Metaphyseal Chondrodysplasia, Jansen Type
Tooth malposition, Brachycephaly OMIM:156400
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Tachypnea, Slurred speech, Episodic respiratory distress, Addictive alcohol... ORPHA:31826
Orofaciodigital Syndrome I
Frontal bossing, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernume... OMIM:311200
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing... ORPHA:637
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed eruption of permanent teeth, Tented upper lip vermilion, Short philtrum, Brachycephaly ORPHA:521445
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Ataxia, Aggressive behavior, Pyloric stenosis, Submucous cleft hard pal... ORPHA:457279
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Fg Syndrome Type 1
Broad-based gait, Short stature, Optic nerve hypoplasia, Abnormal large intestine morphology, Mal... ORPHA:93932
Pleural Mesothelioma
Weight loss ORPHA:50251
X-Linked Cerebral Adrenoleukodystrophy
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Inability to walk, Dysmetria, Gait disturban... ORPHA:139396
Humeroradial Synostosis
Brachycephaly OMIM:236400
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Narrow mouth, Brachycephaly, Cleft palate, Long philtrum OMIM:601353
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Choreoathetosis, Attention defi... ORPHA:261197
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance ORPHA:702
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue ORPHA:2268
Pfeiffer Syndrome Type 3
Intestinal malrotation, Cleft palate, High palate, Brachyturricephaly, Midface retrusion, Anal at... ORPHA:93260
1P36 Deletion Syndrome
Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Hypogonadism, Dys... ORPHA:1606
Mucopolysaccharidosis Type 3
Otitis media, Thickened helices, Conductive hearing impairment, Loss of ambulation, Chronic otiti... ORPHA:581
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... OMIM:611209
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Ataxia, Weight loss ORPHA:3208
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Brachycephaly, Plagiocephaly, Thin vermilion border, Esophagitis, Narrow mouth ORPHA:495818
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Intestinal malrotation, Diastema, Carious teeth, Brachycephaly, High pa... OMIM:244450
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Th... OMIM:619695
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Narrow mouth, Thick lower lip ... OMIM:309590
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Cleft palate, Midface retrusion ORPHA:1427
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Dental malocclusion, Brachycephaly, Hypodontia, Calvarial hyperostosis... OMIM:101800
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Brachycephaly, Plagioc... OMIM:301072
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... OMIM:618874
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Thin upper lip vermilion, Frontal bossing, Brachycephaly, Downturned corners of mouth, Widely spa... OMIM:616728
Joubert Syndrome 22
Molar tooth sign on MRI, Oculomotor apraxia, Agenesis of cerebellar vermis OMIM:615665
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Weill-Marchesani Syndrome 1
Broad skull, Tooth malposition, Brachycephaly, Narrow palate OMIM:277600
Alagille Syndrome
Frontal bossing, Short philtrum, Brachycephaly ORPHA:52
Congenital Myopathy 13
Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Midface retrusion OMIM:255995
Elsahy-Waters Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Midface retrusion, Supernumer... OMIM:211380
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Frontal bossing, Craniosynostosis, Brachycephaly, Cleft palate, Narrow mouth, Microdontia, Midfac... OMIM:245600
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Pfapa Syndrome
Weight loss ORPHA:42642
Mosaic Variegated Aneuploidy Syndrome 1
Brachycephaly, Cleft palate, Long philtrum, Triangular mouth, Midface retrusion, Duodenal atresia OMIM:257300
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Dolichocephaly ORPHA:2633
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of p... OMIM:616894
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:352665
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Tooth agenesis, High palate, Everte... ORPHA:570
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Cleft lip, Cleft palate, Incomplete clef... OMIM:616300
Riboflavin Transporter Deficiency
Ataxia, Cachexia ORPHA:97229
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Sensorineural hearing impairme... ORPHA:3157
Senior-Loken Syndrome 9
Obesity OMIM:616629
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Pyloric stenosis, Patent ductus arteriosus, Protruding ear, Hyp... ORPHA:464306
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Adiposis Dolorosa
Memory impairment, Obesity, Depression ORPHA:36397
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Abnormality of the dentition, Aggressive behavior, Gait ataxia, Eruption failure... ORPHA:476126
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Supranuclear Palsy, Progressive, 1
Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:601104
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Brachycephaly, Cle... ORPHA:3474
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Brachy... OMIM:619950
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... ORPHA:2388
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Tachypnea, Agitation, Extrapyramidal dyskinesia, Cough, Oral aversion, Spasticity ORPHA:134
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Subaortic Stenosis-Short Stature Syndrome
Obesity ORPHA:3191
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Ataxia, Sensorineural hearing impairment, Ileus, Hypohidrosis, Microcolon ORPHA:163746
15Q24 Microdeletion Syndrome
Failure to thrive, Small for gestational age, Obesity ORPHA:94065
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Distal Deletion 12Q
Frontal bossing, Median cleft lip, High, narrow palate, Supernumerary tooth, Esophageal atresia, ... ORPHA:96149
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, Dental malocclusion, Brachycephaly, Narrow palate, Wide mouth, High palate OMIM:227330
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Frontal bossing, Cleft lip, Thick lower lip vermilion, Brachycephaly, ... OMIM:280000
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity OMIM:615980
Liposarcoma
Weight loss ORPHA:69078
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia ORPHA:1933
Urban-Rogers-Meyer Syndrome
Obesity ORPHA:3409
Craniofrontonasal Syndrome
Frontal bossing, Abnormality of the dentition, Cleft upper lip, Brachycephaly, Cleft palate, Coro... OMIM:304110
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, High, narrow palate, Brach... ORPHA:369837
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Malrotation of colon, High,... OMIM:122470
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly OMIM:109120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Prominent antihelix, Inappropriate laughter, Enamel hyp... OMIM:615802
Cap Polyposis
Weight loss ORPHA:160148
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Nmda Receptor Encephalitis
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... ORPHA:217253
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Pyruvate Carboxylase Deficiency
Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, Tip-t... ORPHA:3008
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Aymé-Gripp Syndrome
Thin upper lip vermilion, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Plagioceph... ORPHA:1272
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:412035
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... ORPHA:642
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... OMIM:618580
X-Linked Intellectual Disability, Snyder Type
Dental crowding, Thick lower lip vermilion, Brachycephaly, Cleft palate, High palate, Short philt... ORPHA:3063
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Hypotonia, Ataxia, And Delayed Development Syndrome
Thin upper lip vermilion, Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears,... OMIM:617330
Carpenter Syndrome
Obesity ORPHA:65759
Menkes Disease
Brachycephaly OMIM:309400
Bullous Pemphigoid
Weight loss ORPHA:703
Doors Syndrome
Thin upper lip vermilion, Frontal bossing, Short lingual frenulum, Sagittal craniosynostosis, Abn... ORPHA:79500
Acromelic Frontonasal Dysostosis
Cleft upper lip, Parietal foramina, Brachycephaly, Cleft palate, U-Shaped upper lip vermilion OMIM:603671
Orofaciodigital Syndrome Xiv
Natal tooth, Posteriorly rotated ears, Hamartoma of tongue, Periventricular heterotopia, Cleft li... OMIM:615948
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Joubert Syndrome 37
Obesity OMIM:619185
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Monosomy 9P
Abnormality of the dentition, Brachycephaly, Cleft palate, High palate, Narrow mouth, Trigonoceph... ORPHA:261112
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the pons, Cleft lip, Sensorine... OMIM:616975
Fatal Familial Insomnia
Ataxia, Weight loss OMIM:600072
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Thin upper lip vermilion, Brachycephaly ORPHA:456312
Propionic Acidemia
Tachypnea, Dystonia, Apnea, Limb hypertonia OMIM:606054
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Cachexia ORPHA:42
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Autosomal Recessive Robinow Syndrome
Frontal bossing, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentitio... ORPHA:1507
Kbg Syndrome
Tented upper lip vermilion, Macrodontia, Brachycephaly, Widely-spaced maxillary central incisors,... OMIM:148050
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft lip, Cleft palate, Brachycephaly, Narrow palate OMIM:618223
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
X-Linked Agammaglobulinemia
Glossoptosis, Malabsorption ORPHA:47
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Abnormality of the ... ORPHA:958
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Flat occiput, Dental malocclusion, Gingival overgrowth, Brachycephaly, ... OMIM:249420
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Protruding tongue, High, narrow palate, Macroglossia, High palate, Brachyturricephaly OMIM:214100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Protruding ear, Short philtrum, High palate, Otitis media, Tics, Compulsive ... OMIM:619475
Pitt-Hopkins Syndrome
Deep philtrum, Cupped ear, Gait ataxia, Wide mouth, Self-injurious behavior, Short philtrum, Wide... OMIM:610954
Mcdonough Syndrome
Cachexia ORPHA:2471
Flynn-Aird Syndrome
Ataxia, Cachexia ORPHA:2047
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Dystonia, Ataxia, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Transketolase Deficiency
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... ORPHA:488618
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hype... ORPHA:522077
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Hydroxykynureninuria
Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomi... ORPHA:2907
X-Linked Intellectual Disability, Armfield Type
Brachycephaly, Cleft palate, Downturned corners of mouth, Wide mouth, Short philtrum, Midface ret... ORPHA:85276
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly OMIM:620073
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking ORPHA:300605
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Polymicr... OMIM:277170
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
2Q37 Microdeletion Syndrome
Pyloric stenosis, Downturned corners of mouth, Thin vermilion border, Compulsive behaviors, Atten... ORPHA:1001
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism, Impaired social interact... OMIM:607872
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Triangular mouth, Low-set ears OMIM:607131
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... ORPHA:293948
De Barsy Syndrome
Delayed eruption of teeth, Narrow mouth, Brachycephaly, High palate, Small, conical teeth ORPHA:2962
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, Brachyceph... ORPHA:2785
Au-Kline Syndrome
Sagittal craniosynostosis, Craniosynostosis, Dental malocclusion, Cleft palate, Downturned corner... OMIM:616580
Baller-Gerold Syndrome
Bicoronal synostosis, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Brac... OMIM:218600
Orofaciodigital Syndrome Type 1
Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Ha... ORPHA:2750
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Posteriorly rotated ears, Inab... OMIM:615485
Osteosarcoma
Weight loss ORPHA:668
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glossoptosis, High palate, Microglossia OMIM:254940
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Laron Syndrome
Truncal obesity ORPHA:633
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Joubert Syndrome 39
Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Oculomotor apraxia, Hy... OMIM:619562
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Cranial hyperostosis, Brachycephaly, Macroglossia, Widely spaced teeth, Thicken... ORPHA:309282
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Charge Syndrome
Anal stenosis, Mixed hearing impairment, Facial palsy, Cleft upper lip, Aplasia of the semicircul... OMIM:214800
Agel Amyloidosis
Tongue atrophy, Ataxia, Facial palsy, Xerostomia, Orthostatic hypotension due to autonomic dysfun... ORPHA:85448
Turnpenny-Fry Syndrome
Thin upper lip vermilion, Frontal bossing, Dental crowding, Abnormality of the dentition, Dental ... OMIM:618371
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Chorea, Gingival overgrowth, Gait ataxia, Choreoat... OMIM:619777
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Brachycephaly OMIM:250250
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Brachycephaly, Long philtrum ORPHA:2211
Saethre-Chotzen Syndrome
Parietal foramina, Oxycephaly, Brachycephaly, Cleft palate, Narrow palate, Plagiocephaly, Skull a... OMIM:101400
Tarp Syndrome
Low-set, posteriorly rotated ears, Broad-based gait, Pierre-Robin sequence, Optic atrophy, Alveol... ORPHA:2886
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Protruding tongue, Diastema, Sensorineural hearing impairment, Thick lo... OMIM:301040
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Cleft palate ORPHA:436003
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Turricephaly, Craniosynostosis, Protruding tongue, High, narrow palate,... OMIM:612289
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79086
Thymic Carcinoma
Weight loss ORPHA:99868
Arboleda-Tham Syndrome
Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otitis media, Small earlobe... OMIM:616268
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Frontal bossing, Brachycephaly, Gingival overgrowth OMIM:259600
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum OMIM:300534
Tenorio Syndrome
Emotional lability, Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity OMIM:300354
Rhabdoid Tumor
Weight loss ORPHA:69077
Down Syndrome
Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, Macroglossia, Anal at... OMIM:190685
Sotos Syndrome
Posteriorly rotated ears, High, narrow palate, Conductive hearing impairment, Increased body weig... OMIM:117550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Thin upper lip vermilion, Midface retrusion, Brachycephaly, Steatorrhea OMIM:616263
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Hiatus hernia, Aggr... OMIM:614756
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea ORPHA:2872
Retinitis Pigmentosa 74
Obesity OMIM:616562
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Craniosynostosis, Cleft upper lip, Gingival overgrowth, Cleft palate, Microdontia of primary teet... OMIM:213980
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Pemphigus Vulgaris
Weight loss ORPHA:704
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Oral leukoplakia, Furrowed tongue OMIM:148210
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Craniosynostosis, Dental malocclusion, Narrow palate, High palate, Dolichocephal... OMIM:182212
Robinow Syndrome
Frontal bossing, Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival ove... ORPHA:97360
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Carious teeth, Patent ductus arteriosus, Alveolar ridge overgrowth, Cle... ORPHA:177907
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Weill-Marchesani Syndrome 2
Broad skull, Brachycephaly, Narrow palate, High palate, Tooth malposition OMIM:608328
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Immunodeficiency 27A
Weight loss OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity OMIM:301039
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:256700
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity ORPHA:3041
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Attention deficit hyperactivity disorder, Abnormal re... ORPHA:98784
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Sho... OMIM:619575
Rett Syndrome
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia OMIM:312750
Xp22.13P22.2 Duplication Syndrome
Truncal obesity ORPHA:284180
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum OMIM:617804
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... OMIM:265120
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Optic atrophy, Cough, Hemiplegia, Cerebellar malformation ORPHA:137675
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance, Malabsorption ORPHA:213
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Dental crowding, Ataxia, High, narrow palate, Obesity, Truncal obesity, Ab... OMIM:209900
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Frontal bossing, Brachycephaly, Wide mouth, Long philt... ORPHA:79328
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Intra-oral hyperpigmentation, Brachycephaly, High palate, Hypodontia, Short phil... OMIM:619127
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Short philtrum, Brachycephaly, Midface retrusion OMIM:611962
Wilson Disease
Limb dystonia, Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Hy... OMIM:277900
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity ORPHA:404443
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Short lingual frenulum, Den... OMIM:180700
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea ORPHA:3282
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Chronic Beryllium Disease
Weight loss ORPHA:133
Ring Chromosome 7 Syndrome
Brachycephaly, Cleft palate, Plagiocephaly, Thin vermilion border, Short philtrum, Median cleft p... ORPHA:1449
Takayasu Arteritis
Weight loss ORPHA:3287
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Thickened calvaria,... ORPHA:90652
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan... ORPHA:79474
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... ORPHA:648
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Kinsship Syndrome
Thin upper lip vermilion, Abnormal repetitive mannerisms, Thick lower lip vermilion, Gingival ove... OMIM:619297
Bardet-Biedl Syndrome 17
Obesity OMIM:615994
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Apnea, Anorexia, Spastic hemiparesis, Tachypnea, Myoclonus, Spasticity ORPHA:20
Sandifer Syndrome
Abnormal head movements, Esophagitis, Hiatus hernia ORPHA:71272
Desbuquois Dysplasia 1
Obesity OMIM:251450
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Nephroblastoma
Weight loss ORPHA:654
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Frontorhiny
Bifid tongue, Cleft palate ORPHA:391474
Renpenning Syndrome
Cachexia ORPHA:3242
Low Phospholipid-Associated Cholelithiasis
Overweight, Obesity ORPHA:69663
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Self-injurio... ORPHA:457351
Carpenter Syndrome 2
Frontal bossing, Craniosynostosis, Carious teeth, High, narrow palate, Oxycephaly, Dental maloccl... OMIM:614976
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Legius Syndrome
Hyperactivity, Neurofibroma, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hea... ORPHA:137605
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, L... ORPHA:508498
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign,... ORPHA:415
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Broad-based gait, Repetitive compulsive behavior, Abnormality of the... ORPHA:513456
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum... ORPHA:1519
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Plagiocephaly, Brachycephaly ORPHA:500055
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Lig4 Syndrome
Brachycephaly OMIM:606593
Gm1 Gangliosidosis
Ataxia, Unsteady gait, Weight loss, Gait disturbance, Failure to thrive ORPHA:354
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Kaposi Sarcoma
Weight loss ORPHA:33276
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Autosomal Dominant Robinow Syndrome
Frontal bossing, Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the ... ORPHA:3107
Pseudohypoparathyroidism, Type Ic
Obesity OMIM:612462
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Brachycephaly, Gingival overgrowth, Abnormal palate morphology ORPHA:175
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Bardet-Biedl Syndrome
Obesity ORPHA:110
Leishmaniasis
Weight loss ORPHA:507
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Polyarteritis Nodosa
Weight loss ORPHA:767
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Frontal bossing, Turricephaly, Craniosynostosis, High, narrow palate, Brachycephaly, Anteriorly p... ORPHA:95699
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Dental crowding, Gingival ... OMIM:268310
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... ORPHA:2241
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Microphthalmia, Syndromic 6
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Lambdoidal craniosynostosis, Midface ret... OMIM:607932
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... ORPHA:464738
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Roberts Syndrome
Craniosynostosis, Cleft upper lip, Brachycephaly, Cleft palate, High palate ORPHA:3103
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Pseudohypoparathyroidism, Type Ia
Obesity OMIM:103580
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Turricephaly, Frontal bossing, Thick lower lip vermilion, Brachycephaly... OMIM:612474
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Hy... OMIM:309580
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Dental malocclusion, Alveolar ridge overgro... ORPHA:444072
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Duodenal ulcer, Intestinal ... OMIM:135900
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Brachycephaly, Anal atresia ORPHA:1572
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly ORPHA:371428
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Brachycephaly, Cleft palate, High palate, Short philtrum, ... OMIM:309500
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Brachycephaly, Cleft palate, Hig... OMIM:601776
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... ORPHA:649
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Frontal bossing, Craniosynostosis, Pyloric stenosis, Gingival over... OMIM:602535
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Warburg Micro Syndrome 2
Brachycephaly OMIM:614225
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... OMIM:117650
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br... OMIM:619306
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Congenital Analbuminemia
Small for gestational age, Obesity ORPHA:86816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Impaired pain sensation, High palate, Thick vermilion border, Attention deficit ... OMIM:619005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Open mouth, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia ORPHA:457284
Cerebellofaciodental Syndrome
Aggressive behavior, Hypoplasia of the pons, Dental malocclusion, Taurodontia, Low-set ears, Macr... OMIM:616202
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Dental crowding, Rectal prolapse, Brachycephaly, Thin vermilion border, High pal... OMIM:617157
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Microglossia, Cleft palate ORPHA:2839
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity ORPHA:127
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Yao Syndrome
Weight loss OMIM:617321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Brachycephaly ORPHA:264200
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... ORPHA:434179
Aspartylglucosaminuria
Thick lower lip vermilion, Brachycephaly, Wide mouth, Macroglossia, Thickened calvaria OMIM:208400
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Tetrasomy 12P
Cachexia ORPHA:884
1Q21.1 Microdeletion Syndrome
Frontal bossing, Ankyloglossia, High palate, Long philtrum ORPHA:250989
Congenital Disorder Of Deglycosylation 1
Open mouth, Brachycephaly, Midface retrusion OMIM:615273
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Furrowed tongue OMIM:158310
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Celiac disease, Velo... OMIM:619325
Achondroplasia
Obesity ORPHA:15
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Van Esch-O'Driscoll Syndrome
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Downturned corners of... OMIM:301030
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Dysphagia, High palate, Low-set ear... ORPHA:319182
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Rheumatoid Arthritis
Weight loss OMIM:180300
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Ataxia, Hypogonadotropic hypogona... ORPHA:2495
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Stuve-Wiedemann Syndrome 1
Pursed lips, Frontal bossing, Carious teeth, Thin vermilion border, Smooth tongue, Midface retrusion OMIM:601559
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Cerebrocostomandibular Syndrome
Glossoptosis, Short hard palate, Cleft palate ORPHA:1393
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters ORPHA:79396
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Weight loss ORPHA:465508
Oromandibular Dystonia
Weight loss ORPHA:93958
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity OMIM:216550
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Impulsivity, Aggressive beha... ORPHA:353281
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Developmental And Epileptic Encephalopathy 2
Inability to walk, Thick lower lip vermilion, Abnormal repetitive mannerisms OMIM:300672
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Hyperparathyroidism, Transient Neonatal
Frontal bossing, Brachycephaly OMIM:618188
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... ORPHA:89842
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Periodontitis, Compulsive behaviors, ... ORPHA:534
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate... ORPHA:109
Wolman Disease
Cachexia ORPHA:75233
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss OMIM:212750
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Failure to thrive, Weight loss OMIM:619487
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Aggressive behavior, Cleft lip, Cleft palate, Everted lower lip vermili... OMIM:301066
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, B... OMIM:265380
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth OMIM:608779
Cousin Syndrome
Frontal bossing, Microglossia, Alveolar ridge overgrowth, Cleft palate OMIM:260660
Cocaine Intoxication
Respiratory distress, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumothorax, Agitation... ORPHA:90068
Opitz Gbbb Syndrome
Natal tooth, Craniosynostosis, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, ... ORPHA:2745
Peripartum Cardiomyopathy
Obesity ORPHA:563
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Igg4-Related Aortitis
Weight loss ORPHA:449400
Loeffler Endocarditis
Weight loss ORPHA:75566
Klatskin Tumor
Weight loss ORPHA:99978
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia OMIM:607459
Ménétrier Disease
Weight loss ORPHA:2494
Achondrogenesis, Type Ia
Turricephaly, Protruding tongue OMIM:200600
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med... OMIM:269860
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, High palate, Low-set ears, Difficulty walking, Overfolded helix, Abnormal... OMIM:618653
Monosomy 13Q34
Obesity ORPHA:96168
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Alström Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Precocious puberty in females, Hyp... ORPHA:64
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the stapes, Aganglionic megacolon, Failure to thrive in... ORPHA:798
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth, Cleft palate, Brachy... ORPHA:480880
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Thick lower lip vermilion, Thick vermilion border, Brachycephaly OMIM:610442
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Webb-Dattani Syndrome
Obesity OMIM:615926
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Brachycephaly, Cleft palate OMIM:274000
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Weight loss ORPHA:199299
Vici Syndrome
Abnormal posturing, Cerebellar vermis hypoplasia, Dysphagia OMIM:242840
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow mouth, Anky... ORPHA:261330
Aredyld Syndrome
Cachexia ORPHA:1133
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... ORPHA:99843
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Frontal bossing, Brachycephaly, Downturned corners of mou... OMIM:264090
Stickler Syndrome
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... ORPHA:828
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e... ORPHA:666
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... ORPHA:818
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Hypoplasia of the brainstem, Low-set ... OMIM:616546
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Eosinophilic Granulomatosis With Polyangiitis
Gait disturbance, Weight loss ORPHA:183
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Frontal bossing, Exaggerated cupid's bow, Cleft upp... ORPHA:709
Holocarboxylase Synthetase Deficiency
Hypertonia, Tachypnea, Hyperventilation OMIM:253270
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Pneumocystosis
Weight loss ORPHA:723
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Viss Syndrome
Chronic gastritis, Frontal bossing, Duodenitis, Intestinal malrotation, Cleft soft palate, Submuc... OMIM:619472
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... OMIM:616145
Felty Syndrome
Weight loss ORPHA:47612
Cornelia De Lange Syndrome
Delayed eruption of teeth, Intestinal malrotation, Pyloric stenosis, Brachycephaly, Cleft palate,... ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Dental crowding, Cleft soft... OMIM:619503
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Tachypnea, Hyperkinetic movements, Paresthesia, M... ORPHA:466677
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Mowat-Wilson Syndrome
Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth, Conductive hearing imp... ORPHA:2152
Short Syndrome
Weight loss ORPHA:3163
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Distal Deletion 15Q
Thin upper lip vermilion, Flat occiput, Abnormality of the dentition, Cleft palate, Short philtru... ORPHA:1596
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea ORPHA:860
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Narrow mouth, Gingival overgrowth, Long philtrum, Open mouth, Abnormal repetit... ORPHA:508533
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Increased body weight, Ketotic hypoglycemia, Fasting hypoglycemia ORPHA:79240
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Colon perforation, Intrauterine growth retardation, P... OMIM:600001
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure to thrive ORPHA:264580
Noonan Syndrome With Multiple Lentigines
Brachycephaly ORPHA:500
Refractory Celiac Disease
Weight loss ORPHA:398063
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
Dysbetalipoproteinemia
Obesity ORPHA:412
Xylt1-Cdg
Truncal obesity ORPHA:370930
Chops Syndrome
Obesity OMIM:616368
Lenz-Majewski Hyperostotic Dwarfism
Frontal bossing, Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia... OMIM:151050
Lynch Syndrome
Gait disturbance, Weight loss ORPHA:144
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, Plagiocephaly,... ORPHA:444077
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... ORPHA:261537
Hyperparathyroidism, Neonatal Severe
Dyspnea, Polydipsia, Tachypnea OMIM:239200
Yunis-Varon Syndrome
Premature loss of primary teeth, Abnormal occipital bone morphology, Abnormality of dental struct... ORPHA:3472
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Budd-Chiari Syndrome
Weight loss ORPHA:131
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... ORPHA:353277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Microcolon, Ileal atresia OMIM:619351
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Cleft palate, Downturned cor... OMIM:301044
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Familial Colorectal Cancer Type X
Gait disturbance, Weight loss ORPHA:440437
Kallmann Syndrome
Obesity ORPHA:478
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Pneumonia ORPHA:36234
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Ogden Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Abnormality of the dentition, Abnormal rep... OMIM:300855
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Cerebellar ve... OMIM:619476
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Primary Myelofibrosis
Cachexia ORPHA:824
Whipple Disease
Ataxia, Cachexia ORPHA:3452
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Protruding tongue OMIM:617062
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Downturned corners of mouth, Ankyloglossia, Cleft palate ORPHA:488642
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... ORPHA:261552
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Cerebellar vermis hypoplasia, Tremor, Tachypnea, Truncal ataxia, Dysmetria, Dys... OMIM:220111
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Dolichocephaly, Carious teeth, Downturned corners of mouth... OMIM:620186
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Posteriorly rotated ears, Widely spaced teeth, Low-set ears, Long philtru... OMIM:619479
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Abnormal tongue... ORPHA:653
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity OMIM:616541
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microglossia, Anal atresia OMIM:146510
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue ORPHA:50945
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Dystonia OMIM:618278
Ulnar-Mammary Syndrome
Obesity ORPHA:3138
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity ORPHA:2637
Riddle Syndrome
Ataxia, Gait disturbance, Weight loss ORPHA:420741
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Patent ductus arteriosus, Unsteady g... OMIM:616682
Fraser Syndrome
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... ORPHA:2052
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Frontal bossing, Agenesis of incisor, Wide mouth, Plagiocephaly, Poster... OMIM:619841
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Sheehan Syndrome
Obesity ORPHA:91355
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... OMIM:249000
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Thymoma
Weight loss ORPHA:99867
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Thick lower ... OMIM:259050
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cleft palate, Narrow mouth, Coronal craniosynostosis, Brachyturricephaly ORPHA:83617
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Esophageal varix, Brachycephaly ORPHA:2072
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia ORPHA:220295
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Weight loss ORPHA:99885
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Bardet-Biedl Syndrome 20
Obesity OMIM:619471
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate ORPHA:201
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Cystic Echinococcosis
Weight loss ORPHA:400
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Pancreatoblastoma
Weight loss ORPHA:677
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Oculopharyngodistal Myopathy 1
Ataxia, Difficulty walking, Weight loss OMIM:164310
Gaisböck Syndrome
Overweight, Obesity ORPHA:90041
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Wide mouth, Fusion of midd... OMIM:157800
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Poems Syndrome
Weight loss ORPHA:2905
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Malrotation of smal... OMIM:194190
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Polycythemia Vera
Weight loss ORPHA:729
Alveolar Echinococcosis
Ataxia, Weight loss ORPHA:284
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
Liver Disease, Severe Congenital
Irritability, Failure to thrive, Abnormal circulating thyroid hormone concentration, Hyperinsulin... OMIM:619991
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Al Amyloidosis
Weight loss ORPHA:85443
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Kawasaki Disease
Glossitis, Cheilitis ORPHA:2331
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Pyomyositis
Weight loss ORPHA:764
Kabuki Syndrome
Failure to thrive, Obesity ORPHA:2322
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Carious teeth, Patent ductus arteriosus, Downturned corners of mouth, M... OMIM:619522
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Cloverleaf skull, Craniosynostosis, Brachycephaly, Anteriorly placed anus, Midfa... OMIM:201750
White-Kernohan Syndrome
Obesity OMIM:619426
Tropical Pancreatitis
Weight loss ORPHA:103918
Familial Thrombocytosis
Weight loss ORPHA:71493
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Exercise-Induced Malignant Hyperthermia
Tachypnea, Ataxia, Crackles, Hypocapnia ORPHA:466650
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Degcags Syndrome
Jejunal atresia, Craniosynostosis, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth... OMIM:619488
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, ... ORPHA:93271
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Myhre Syndrome
Small for gestational age, Obesity OMIM:139210
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Bloom Syndrome
Abdominal obesity, Small for gestational age ORPHA:125
22Q11.2 Deletion Syndrome
Failure to thrive, Obesity ORPHA:567
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Caroli Disease
Weight loss ORPHA:53035
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Low-set ears, Intra... ORPHA:1662
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Esophag... ORPHA:79408
Q Fever
Weight loss ORPHA:781
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Cleft upper lip, Brachycephaly, Cleft palate, High palate OMIM:268300
Stüve-Wiedemann Syndrome
Smooth tongue, Abnormality of the dentition ORPHA:3206
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy ORPHA:529962
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity OMIM:614231
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Castleman Disease
Weight loss ORPHA:160
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Decreased body weight ORPHA:800
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Microsporidiosis
Glossitis ORPHA:2552
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Malt Lymphoma
Weight loss ORPHA:52417
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Pmm2-Cdg
Ataxia, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin... ORPHA:79318
Neutral Lipid Storage Myopathy
Obesity ORPHA:98908
Carney Complex
Tall stature, Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:1359
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosis, Cleft palate, B... OMIM:270400
Behçet Disease
Ataxia, Gait disturbance, Weight loss ORPHA:117
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity ORPHA:1772
Seckel Syndrome
Cachexia ORPHA:808
Beckwith-Wiedemann Syndrome
Obesity, Tall stature, Large for gestational age ORPHA:116
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Multiple Myeloma
Weight loss ORPHA:29073
Trisomy 18
Cachexia ORPHA:3380
Immunodeficiency 31C
Weight loss OMIM:614162
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio... OMIM:312870
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Obesity, Bruxism ORPHA:48652
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Cockayne Syndrome
Ataxia, Cachexia, Inability to walk, Progressive gait ataxia, Gait disturbance, Difficulty walking ORPHA:191
Rat-Bite Fever
Weight loss ORPHA:31205
Reactive Arthritis
Weight loss ORPHA:29207
Camurati-Engelmann Disease
Waddling gait, Ataxia, Slender build, Cachexia ORPHA:1328
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Hellp Syndrome
Increased body weight ORPHA:244242
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Rubinstein-Taybi Syndrome 1
Truncal obesity, Failure to thrive, Small for gestational age OMIM:180849
Plague
Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis ORPHA:707
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Ppoma
Weight loss ORPHA:97278
Fanconi Anemia
Weight loss ORPHA:84
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Cleft lip, Scaphocephaly, Cleft palate, Trigonocephaly, Mic... ORPHA:672
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Somatostatinoma
Weight loss ORPHA:97283
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Parathyroid Carcinoma
Weight loss ORPHA:143
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss ORPHA:652
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Williams Syndrome
Failure to thrive in infancy, Obesity ORPHA:904
Grfoma
Weight loss ORPHA:97261
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Vipoma
Weight loss ORPHA:97282
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia OMIM:619525
Witteveen-Kolk Syndrome
Small for gestational age, Obesity OMIM:613406
Postinfectious Vasculitis
Weight loss ORPHA:48435
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Ulnar-Mammary Syndrome
Obesity OMIM:181450
Dermatomyositis
Weight loss ORPHA:221
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea OMIM:233450
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity OMIM:619321
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Nocardiosis
Weight loss ORPHA:31204
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity OMIM:194050
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Digeorge Syndrome
Obesity OMIM:188400
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Truncus Arteriosus
Tachypnea ORPHA:3384
Proteus Syndrome
Cachexia ORPHA:744
Pallister-Killian Syndrome
Obesity OMIM:601803
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bdnf

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bdnf.

No publications found that use IMPC mice or data for Bdnf.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bdnftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Bdnftm232448(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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