Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
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 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Axial hypotonia, Gray matter heterotopia, Neonatal hypotonia, Spasticit... |
ORPHA:1084 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Lissencephaly 1 |
|
Axial hypotonia, Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lis... |
OMIM:607432 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Attention deficit hyperactiv... |
OMIM:618709 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Lissencephaly 3 |
|
Ataxia, Periventricular laminar heterotopia, Pachygyria, Spastic tetraplegia, Hypotonia, Gray mat... |
OMIM:611603 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Hyperactivity, Spastic tetraparesis, Micrognathia, Pachygyria, Aggressive ... |
OMIM:604317 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
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 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Unsteady gait, Dental malocclusion, Hypotonia, Gait ataxia, High palate |
OMIM:618292 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Hypotonia, Tetraparesis, Generalized hypotonia, Periventricular nodu... |
OMIM:608097 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypotonia, Spastic tetraplegia, Hypertonia, Lissencephaly, Periventricular ribbonlike heterotopia... |
OMIM:618677 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Hypertonia, Lisse... |
ORPHA:1083 |
Lissencephaly, X-Linked, 1 |
|
Axial hypotonia, Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agyria |
OMIM:300067 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypotonia, Stereotypical hand wringing, Ventriculomegaly |
OMIM:619561 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Violent behavior, Tongue atrophy, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal p... |
ORPHA:216873 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... |
OMIM:619470 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, High palate |
OMIM:309560 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, Hypotonia, High palate, Generalized hypotonia, Dysphagia |
OMIM:608931 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Hypodontia, Limb dystonia |
OMIM:620270 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... |
OMIM:618106 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Dy... |
OMIM:302500 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... |
OMIM:613684 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Mandibular prognathia, Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropria... |
OMIM:616269 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia... |
ORPHA:166108 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion, Ataxia |
OMIM:619692 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Spastic paraplegia |
OMIM:618572 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Axial hypotonia, Ataxia, Diastema, Gingival overgrowth, Downturned corn... |
OMIM:618729 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior |
OMIM:615541 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration, Spasticity |
ORPHA:101029 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, D... |
OMIM:610883 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Bifid uvula |
OMIM:612938 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Generali... |
OMIM:618273 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypoto... |
OMIM:253250 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Hypotonia, Widely-spaced maxillary central incisor... |
OMIM:619719 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypotonia, Hypertonia, Abnormality of neuronal migration, Cleft palate |
ORPHA:2216 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Generalized hypotonia, Neo... |
ORPHA:370980 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, High palate, Spasticity, Retrognathia |
OMIM:300983 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Tremor, High palate, Short philtrum, Generalized hypotonia, Abnorm... |
OMIM:618342 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:604213 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Oromotor apraxia, Hemiparesis, Gray matter heterotopia, Lateral ventr... |
ORPHA:300573 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Micr... |
OMIM:616212 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... |
ORPHA:61 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Hypotonia, Dystonia, Spast... |
ORPHA:599373 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Narrow mouth, Hypotonia, Cleft palate, Thin vermilion border, Long philtrum, In... |
OMIM:615502 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal... |
ORPHA:2471 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dysphagia, Dystonia... |
OMIM:617916 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Limb ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, Oromandibular dysto... |
ORPHA:521406 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ... |
OMIM:618587 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Generalized hypo... |
ORPHA:71517 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... |
OMIM:618580 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Atypical Rett Syndrome |
|
Restrictive behavior, Neonatal hypotonia, Dystonia, Involuntary movements, Tremor, Inability to w... |
ORPHA:3095 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Microdontia, Serrated incisors |
OMIM:272440 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia... |
OMIM:617435 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Incoordination, Micrognathia, Diastema, Dental malocclusion, Poor fine motor coordination, Malar ... |
ORPHA:436245 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Short philtrum, Everted lower lip vermi... |
OMIM:619556 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Hypotonia, Attention deficit ... |
OMIM:619149 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... |
ORPHA:276435 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O... |
OMIM:612716 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... |
OMIM:615924 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Hypotonia, Dysmetria, Gait ataxia, Gait distu... |
OMIM:618090 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion... |
OMIM:123450 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Axial hypotonia, High palate, Ataxia |
OMIM:618951 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... |
ORPHA:240103 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Hypotonia, Wide mouth, Sh... |
OMIM:619293 |
Hemimegalencephaly |
|
Ventriculomegaly, Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria, Polymicrogyria, Ab... |
ORPHA:99802 |
Hsd10 Disease |
|
Ventriculomegaly, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myoclon... |
ORPHA:391417 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Hypotonia, Downturned corners of mouth, Wide mouth, E... |
OMIM:618067 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Myopathy, Myofibrillar, 8 |
|
Micrognathia, Dental malocclusion, High palate, Dysphagia, Neonatal hypotonia, Frequent falls |
OMIM:617258 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Ring Chromosome 22 Syndrome |
|
Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Gingival overgrowth, Bruxism, Dysphagia, Choreoathetosis, High p... |
OMIM:619422 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum |
OMIM:617804 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Hypertonia, High palate, Short philtrum, Microdontia, Self-mutilat... |
ORPHA:251028 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Bruxism, Downturned corners of mouth, Self-injurious be... |
OMIM:618718 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradyki... |
ORPHA:53351 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ... |
ORPHA:96147 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Axial hypotonia, Facial hypotonia, Aggressive behavior, Babinski sign, Nar... |
ORPHA:364028 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, ... |
OMIM:233910 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp... |
OMIM:612736 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Subcort... |
OMIM:601390 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Micrognathia, Trem... |
OMIM:300055 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal tongue physiology, Tremor, Abnormal eating behavior, Poor coordination, Hypotoni... |
ORPHA:544254 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Hypotonia, Thick vermilion border, Macrodontia o... |
OMIM:620114 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
Myopathy, Centronuclear, X-Linked |
|
Severe muscular hypotonia, Hydrocephalus, Dental malocclusion, High palate, Neonatal hypotonia, D... |
OMIM:310400 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclon... |
OMIM:615362 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Lissencephaly 5 |
|
Hydrocephalus, Subcortical band heterotopia, Spastic paraplegia, Hypotonia, Gray matter heterotop... |
OMIM:615191 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Spastic tetraplegia, Hemiplegia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Babinski sign, Abnormality of neuronal migration, Hypotonia, Macroglossia, Generalized hypotonia,... |
OMIM:608840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98794 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder |
OMIM:616421 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Micrognathia, Aggressive behavior, Unsteady gait, Dental malocclusion, Tongue t... |
OMIM:606232 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit... |
OMIM:620065 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... |
ORPHA:98763 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Tremor, Dysmetria, Dysphagia, Pr... |
ORPHA:289494 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Exaggerated start... |
ORPHA:438216 |
Raine Syndrome |
|
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Narro... |
OMIM:259775 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... |
ORPHA:240085 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia, Dystonia |
OMIM:618093 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Abnormality of neuronal migration, Hypotonia, Hyperkinetic movements, Gait disturbance, S... |
OMIM:300957 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Waddling gait, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hyperactivity, Aggressive behavior, Tremor, Thick lower lip vermilion, Sim... |
OMIM:300354 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinsk... |
OMIM:183090 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Gastroschisis, Cleft palate |
ORPHA:2476 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal ... |
OMIM:614831 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... |
OMIM:606703 |
Larsen-Like Syndrome |
|
Dental malocclusion, Hypotonia, Cleft palate, Generalized hypotonia, Malar flattening |
OMIM:608545 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dysphagia, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking... |
OMIM:159950 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Axial hypotonia, Dental crowding, Ataxia, Micrognathia, Pierre-Robin sequence,... |
OMIM:617201 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Hypotonia, Gait ata... |
OMIM:618877 |
Muenke Syndrome |
|
Malar flattening, High palate, Attention deficit hyperactivity disorder, Dental malocclusion |
OMIM:602849 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... |
OMIM:606159 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Widely spaced teeth, Myoclonus, Generalized hypotonia, R... |
OMIM:619092 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Gait ... |
OMIM:615157 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... |
ORPHA:363654 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia... |
OMIM:261640 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Ataxia, Dental malocclusion, Narrow palate, Thick upper lip vermilion |
OMIM:617883 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, S... |
ORPHA:3079 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Simplified gyral pattern, Dysmetria, Short philtrum, High p... |
ORPHA:96121 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Long philtrum, Ep... |
OMIM:312170 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagi... |
OMIM:617008 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Hamartoma of tongue, Inability to walk, Hypotonia, Gray matter heterotopia, Oculomotor ap... |
OMIM:617563 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Cerebral palsy, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Hi... |
ORPHA:765 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Oligodontia, Hypodontia, Dy... |
OMIM:607694 |
Seckel Syndrome 1 |
|
Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Clef... |
OMIM:210600 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth |
OMIM:608779 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Hypotonia, Anterior open-bite m... |
OMIM:617877 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ... |
OMIM:614381 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, High, narrow palate, High palate, Protruding tongue |
OMIM:214100 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Dysph... |
ORPHA:79263 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Abnormality of... |
ORPHA:163681 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk... |
OMIM:617013 |
Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:72 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Cario... |
ORPHA:10 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Oculomotor a... |
OMIM:615960 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly... |
ORPHA:89844 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... |
ORPHA:210110 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Hydrocephalus, Abnormality of neuronal migration, Downturned corners of mouth, Thin... |
ORPHA:1895 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophar... |
ORPHA:363444 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Ataxia, Dental malocclusion, Downturned corners of mo... |
OMIM:616737 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... |
ORPHA:99843 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Par... |
OMIM:607483 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
Chiari Malformation Type Ii |
|
Ataxia, Hydrocephalus, Hypotonia, Opisthotonus, Gray matter heterotopia, Generalized hypotonia, D... |
OMIM:207950 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Abnormality of the dentition, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Subcort... |
OMIM:615546 |
Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Ventriculomegaly, Pachygyria, Thin upper lip vermilion |
ORPHA:2512 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Generali... |
ORPHA:329178 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Micrognathia, Tremor, Aggressive behavior, Velopharyngeal insufficiency, Dyspha... |
OMIM:300978 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Ataxia, Impulsivity, Micrognathia, Tremor, High, narro... |
OMIM:619312 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, High palate, Protruding tongue |
OMIM:617062 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... |
OMIM:619777 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Inguinal hernia, High palate, Cleft palate |
ORPHA:1135 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ata... |
ORPHA:1170 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dystonia, Ataxia, Axial hypotonia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic t... |
OMIM:617710 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Cohen Syndrome |
|
Facial hypotonia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, G... |
OMIM:216550 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... |
ORPHA:85321 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Hypotonia, Ataxia, Myoclonus |
OMIM:616366 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Micrognathia, Gray matter heterotopia, Widely spaced teeth, Microdontia, Spasticity |
OMIM:619694 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... |
OMIM:612438 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Broad-based gait, Resting tremor, Periventricular heterotopia, Thick ve... |
ORPHA:397941 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia |
OMIM:613680 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, D... |
ORPHA:98764 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Ataxia, Tremor, Babinski sign, Hypotonia, Narrow palate, Gait ataxia,... |
OMIM:616505 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,... |
OMIM:616795 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Ataxia, Cerebral palsy, Micrognathia, Perive... |
OMIM:619833 |
Joubert Syndrome |
|
Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Orofacial cleft, Hypotonia, Gai... |
ORPHA:475 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Selective tooth agenesis, Micrognathia, Dental malocclusion, Abnormal muscle to... |
ORPHA:2959 |
Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Tented upper lip vermilion, Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrog... |
OMIM:615673 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Cerebellofaciodental Syndrome |
|
Aggressive behavior, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central... |
OMIM:616202 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Neuromuscul... |
ORPHA:240071 |
Acalvaria |
|
Hydrocephalus, Abnormality of neuronal migration, Cleft palate |
ORPHA:945 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Lim... |
ORPHA:70594 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... |
ORPHA:477673 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hypotonia, Cleft palate, High pala... |
OMIM:300867 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Thin vermilion border, Gait disturbance, Narrow mouth, Long ph... |
ORPHA:3307 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Obsessive-... |
ORPHA:36387 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Achondrogenesis, Type Ia |
|
Protruding tongue |
OMIM:200600 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... |
OMIM:302800 |
Desmosterolosis |
|
Abnormal cortical gyration, Micrognathia, Pachygyria, Rigidity, Hydrocephalus, Submucous cleft ha... |
ORPHA:35107 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Gait disturbance, Ventriculomegaly |
OMIM:603472 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Ventriculomegaly, Hydrocephalus, Retr... |
OMIM:614643 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal ethmoid bone morphology, Gray matter heterotopia, Lim... |
ORPHA:101030 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypotonia |
ORPHA:65 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernum... |
OMIM:234100 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Chorea, Dental malocclusion, Sp... |
ORPHA:1855 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Tremor, Hypotonia, Downturned corners of mouth, Self-injurious beha... |
ORPHA:238750 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Abnormal cortical gyration, Pachygyria, Hydrocephalus, Submucous cleft hard pal... |
ORPHA:899 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Peroxisome Biogenesis Disorder 5B |
|
Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hypotonia, Oculomotor a... |
OMIM:614867 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... |
ORPHA:444072 |
Galloway-Mowat Syndrome |
|
Abnormality of the dentition, Micrognathia, Hemiplegia/hemiparesis, Aqueductal stenosis, Abnormal... |
ORPHA:2065 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tented upper lip vermilion, Axial hypotonia, Tremor, Truncal tituba... |
OMIM:618056 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Dandy-Walker malformation, Hypotonia, Ventriculomegaly |
OMIM:617622 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Hypotonia, Clumsiness, Poor... |
ORPHA:137898 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia, Downturned corners of mouth, Thick vermilion border, Attention defic... |
OMIM:618974 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Alg11-Cdg |
|
Axial hypotonia, Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Long philtrum, Retrog... |
ORPHA:280071 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Abnormal cortical gyration, Cleft upper lip, Hypoplasia of the maxi... |
OMIM:610829 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Ventriculomegaly, Micrognathia, Hypotonia, Hypertonia, High palate, Sho... |
OMIM:619188 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Widely spaced teeth, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Upp... |
OMIM:619229 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hypotonia, Hyperkinetic movements, Upper limb spasticity, High palate, Gait disturbance, ... |
ORPHA:457240 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Micrognathia, Hypotonia, Gray matter heterotopia, Macroglossia, High palate,... |
OMIM:619775 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Hydrocep... |
OMIM:300373 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... |
OMIM:300894 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Inabil... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Inabil... |
ORPHA:352665 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Inability to walk, Tremor, Limb tremor, Hypotonia, High palate, Neonat... |
OMIM:218000 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Au-Kline Syndrome |
|
Dental malocclusion, Bifid tongue, Cleft palate, Hypotonia, Downturned corners of mouth, Oligodon... |
OMIM:616580 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Hyperactivity, Ataxia, Tremor, Thick lower lip vermilion, Unsteady gait... |
ORPHA:1942 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... |
OMIM:168605 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormality of the philtrum, Abnormal cortical gyration, Micrognathia, Pachygyr... |
ORPHA:2671 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Hypotonia, Narrow pa... |
OMIM:182212 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Anteriorly placed anus, Oligodo... |
OMIM:612289 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Fragile X Syndrome |
|
Mandibular prognathia, Hyperactivity, Periventricular heterotopia, Self-biting, Recurrent hand fl... |
OMIM:300624 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Ataxia, Aggressive behavior... |
ORPHA:572798 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Dystonia, Periventricular heterotopia, Hypotonia, Lateral ventricle d... |
OMIM:614105 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion |
OMIM:608940 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Torticollis, Axial hypotonia, Dental crowding, F... |
OMIM:618371 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Abnormality of neuronal migration, Narrow palate, Tooth... |
ORPHA:2063 |
Harrod Syndrome |
|
Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low... |
OMIM:611174 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Degcags Syndrome |
|
Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, High palate, Thi... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Tremor, Aggressive behavior, Hypotonia, ... |
OMIM:617061 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Thick lower lip vermilion, Irregularly spaced teeth |
OMIM:300337 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Hypotonia, Pachygyria, Ventriculomegaly |
ORPHA:255138 |
Neonatal Adrenoleukodystrophy |
|
Hypotonia, Abnormality of neuronal migration, Abnormal palate morphology |
ORPHA:44 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Ventriculomegaly, Clonus, Hydrocephalus, Abnormal pyramidal sign, Macro... |
ORPHA:370959 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Retrognathia, Narrow palate, Conic... |
OMIM:235510 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Axial hypotonia, Micrognathia, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Neonata... |
OMIM:614887 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Cleft upper lip, Abnormality... |
ORPHA:261236 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Ataxia, Periventricular heterotopia, Rigidity, Hydr... |
OMIM:618476 |
Cockayne Syndrome A |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Tremor, Dental m... |
OMIM:216400 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... |
OMIM:614298 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Protruding tongue, Micrognathia, Paraparesis, Oromotor apraxia, Perisylvia... |
ORPHA:98889 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Schisis Association |
|
Omphalocele, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Denta... |
OMIM:101800 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Hamartoma of tongue, Micrognathia, Tremor, Abnormality of neuronal migration, Cleft palat... |
ORPHA:2754 |
Noonan Syndrome 4 |
|
Wide mouth, Thick vermilion border, Dental malocclusion |
OMIM:610733 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Bleph... |
ORPHA:800 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent... |
ORPHA:73223 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Dental malocclusion, Infa... |
ORPHA:487796 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Hypotonia, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord... |
OMIM:619574 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Malar... |
OMIM:269500 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Generalized hypotonia, Lethargy, Polymicro... |
OMIM:617397 |
Cockayne Syndrome |
|
Axial hypotonia, Abnormal dental morphology, Ataxia, Delayed eruption of primary teeth, Action tr... |
ORPHA:191 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Bradykinesia, Blepharospasm, Falls, Dyst... |
ORPHA:683 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Thanatophoric Dysplasia Type 2 |
|
Hypotonia, Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:93274 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Ataxia, Micrognathia, Tremor, Inability to walk, Dysmetria, Limb ataxia, D... |
OMIM:617675 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia, Short stepped ... |
OMIM:168600 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn... |
ORPHA:353281 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, High palate, Postural tremor, Dysphagia |
OMIM:619790 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hydrocephalus, Dental malocclusion, Cleft palat... |
OMIM:101200 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Paralysis |
ORPHA:83601 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Tremor, Hydrocephalus, Hypotonia, Cleft palate, Orofacial cleft, Gait disturbance, Oculom... |
ORPHA:220497 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Generalized hypotonia,... |
OMIM:618060 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Truncal ataxia, L... |
OMIM:208920 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Generalized hypotonia, Oculomotor apraxia, Sp... |
ORPHA:529665 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Gray matter heterotopia, High palate, Lissencephal... |
OMIM:617822 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Ventriculomegaly, Ataxia, Micrognathia, Hypoplasia of the maxilla, Gray matt... |
ORPHA:314679 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor,... |
OMIM:619680 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:2772 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Severe muscular hypotonia... |
ORPHA:25 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... |
ORPHA:90289 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perm... |
OMIM:616894 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Self-... |
OMIM:180849 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Shuffling gait... |
OMIM:168601 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Ataxia, Abnormal dental enamel morphology... |
ORPHA:666 |
3C Syndrome |
|
Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Abnormality of neuronal migra... |
ORPHA:7 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Tremor, Dental m... |
OMIM:133540 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Hypotonia, Gray matter hete... |
OMIM:615219 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Dandy-Walker malformation, Cleft palate |
OMIM:164180 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... |
OMIM:617988 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... |
ORPHA:845 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High palate, Gait d... |
OMIM:265000 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Tremor, Hydrocephalus, Abnormality of neuronal migration, Orofacial cleft, Hypotonia, Gai... |
ORPHA:1454 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr... |
ORPHA:97360 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus, Hypotonia, Ventriculomegaly |
ORPHA:2655 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Micrognathia, Tremor, Aggressive behavior, Hypotonia, Hypertonia, Generalized hypotonia |
OMIM:608093 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Abnormality of the dentition, Micrognathia, Tremor, Thick lower ... |
OMIM:617557 |
Martin-Probst Syndrome |
|
Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar flattening |
OMIM:300519 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Axial hypotonia, Impulsivity, Periventricular heterotopia, Self-injurio... |
OMIM:618929 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Gastros... |
ORPHA:989 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man... |
OMIM:614008 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Tremor, Hydrocephalus, Hypotonia, Cleft palate, Orofacial cleft, Gait disturbance, Oculom... |
ORPHA:220493 |
6Q Terminal Deletion Syndrome |
|
Micrognathia, Periventricular heterotopia, High, narrow palate, Abnormality of neuronal migration... |
ORPHA:75857 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Hyperactivity, Abnormal lateral ventricle morphology, Dental crowding, Impulsivity, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Hyperactivity, Abnormal lateral ventricle morphology, Dental crowding, Impulsivity, ... |
ORPHA:353277 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Hypotonia, Wide... |
OMIM:249420 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Ataxia, Facial hypotonia, Anorexia, Tremor, Rigidity, Chorea, Episodic h... |
ORPHA:2131 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Hydrocephalus, Dental malocclusion, High palate, Narrow mou... |
OMIM:102500 |
Oliver Syndrome |
|
Mandibular prognathia, High palate, Short philtrum, Dental malocclusion |
ORPHA:2920 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Micrognathia, Tremor, Trismus, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic mov... |
OMIM:616271 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Axial hypotonia, Clonus, Micrognathia, Tr... |
OMIM:615574 |
Tetanus |
|
Tremor, Trismus, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... |
OMIM:234200 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Periventricular heterotopia, Hypotonia, Attention deficit hyperactivity disord... |
OMIM:618870 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Spastic tetraplegia, Hypotonia, Gray matter heterotopia, Hypertonia, Dyst... |
OMIM:620024 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Tremor, Aggressive behavior, Gait at... |
ORPHA:476126 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Micrognathia, Periventricular heterotopia, Dysphagia, Wide mouth, Colpocephaly,... |
ORPHA:261250 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Gray matter hete... |
OMIM:247200 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Axial hypotonia, Ne... |
OMIM:616268 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis, Ventriculomegaly |
OMIM:617186 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Hypotonia, Narrow palate, ... |
OMIM:303600 |
Joubert Syndrome With Oculorenal Defect |
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Hypotonia, Hydrocephalus, Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Mohr Syndrome |
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Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... |
OMIM:252100 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Thick lower lip vermilion, Gray matter heterotopia, Generalized hypotonia, Narrow mouth, Neonatal... |
OMIM:608624 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Abnormality of neuronal migration, Narrow palate, Hypotonia, High palate, Neonatal hypotonia, Let... |
OMIM:608836 |
Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Dental malocclusion |
OMIM:259730 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
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Glossoptosis, Cleft palate |
OMIM:618356 |
Neurocutaneous Melanocytosis |
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Hemiparesis, Ventriculomegaly, Abnormality of neuronal migration, Dandy-Walker malformation |
ORPHA:2481 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Microretrognathia, Ventriculomegaly, Periventricular heterotopia, Pachygyria, Abnormal pyramidal ... |
ORPHA:468631 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
Parkinson Disease 21 |
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Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Pontocerebellar Hypoplasia, Type 1B |
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Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Monosomy 22Q13.3 |
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Hyperactivity, Dental crowding, Hair-pulling, Dental malocclusion, Bruxism, Neonatal hypotonia, M... |
ORPHA:48652 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Acquired Hypertrichosis Lanuginosa |
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Macroglossia, Glossitis |
ORPHA:2221 |
Young-Onset Parkinson Disease |
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Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... |
ORPHA:2828 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Williams Syndrome |
|
Micrognathia, Tremor, Dysmetria, Compulsive behaviors, Microdontia, Abnormal dental morphology, A... |
ORPHA:904 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Opitz-Kaveggia Syndrome |
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Dental crowding, Cleft upper lip, Micrognathia, Hydrocephalus, Thick lower lip vermilion, Hypoton... |
OMIM:305450 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth, High palate |
OMIM:227330 |
Odontoonychodermal Dysplasia |
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Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Lower limb spasticity, Ataxia, Delayed eruption of primary teeth, Abnormal... |
ORPHA:90321 |
Doors Syndrome |
|
Thin upper lip vermilion, Dandy-Walker malformation, Short lingual frenulum, Abnormality of the d... |
ORPHA:79500 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Periventricular nodular hete... |
ORPHA:352582 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Impulsivity, Cleft upper lip, Cleft palate, Narrow palate, Gray matter heterotopia... |
OMIM:610443 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Glossoptosis, Cleft palate |
ORPHA:440354 |
Periventricular Nodular Heterotopia 9 |
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Everted upper lip vermilion, Broad-based gait, Hypoplastic philtrum, Gingival overgrowth, Gray ma... |
OMIM:618918 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi... |
OMIM:603457 |
Thanatophoric Dysplasia, Type I |
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Neonatal death, Gray matter heterotopia, Hydrocephalus, Hypotonia |
OMIM:187600 |
Hyperlysinemia |
|
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... |
ORPHA:2203 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyramidal sign, Hypo... |
ORPHA:58 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Abnormal facial skeleton morphology |
ORPHA:562 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, High, narrow palate, Hydrocephalus, Abnormality of neuronal migration, Generalized hy... |
ORPHA:228308 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Abnormal cortical gyration, Hamartoma of tongue, Cleft upper... |
OMIM:311200 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
W Syndrome |
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Submucous cleft hard palate, Spasticity, Agenesis of maxillary central incisor, Broad uvula, Uppe... |
ORPHA:2804 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Gray matter heterotopia, Abnormal tongue morphology, Difficulty walking |
ORPHA:531151 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Cleft upper lip, Micrognathia, Hypotonia, Narrow palate, Gray matter hete... |
OMIM:605039 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Hypotonia, At... |
OMIM:615356 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short ph... |
OMIM:616449 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla |
OMIM:612731 |
Central Incisors, Absence Of |
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Agenesis of central incisor |
OMIM:302400 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Axial hypotonia, Tremor, Fasciculations, Dysgyria, Limb hypertonia |
OMIM:620327 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Abnormality of the dentition, Hypotonia, Cleft palate, Thin vermilion b... |
ORPHA:363611 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Inability to walk, Thick lower lip vermilion, Hypotonia, Wide mouth, Difficulty... |
OMIM:611087 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Periventricular heterotopia, Aqueductal stenosis, Cleft lip, ... |
OMIM:619895 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Fraser Syndrome 1 |
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Dental crowding, Abnormal cortical gyration, Cleft upper lip, Hydrocephalus, Dental malocclusion,... |
OMIM:219000 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysphagia, Progressive gait at... |
OMIM:606002 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Ataxia, Tremor, Hypotonia, Generalized hypotonia, Long philtrum, Neonatal deat... |
OMIM:614052 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Hypotonia, Ventriculomegaly |
ORPHA:1860 |
Williams-Beuren Syndrome |
|
Incoordination, Thick lower lip vermilion, Dental malocclusion, Vocal cord paralysis, Poor coordi... |
OMIM:194050 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Holoprosencephaly |
|
Median cleft lip, Bilateral cleft lip, Deep philtrum, Chorea, Hydrocephalus, Abnormality of neuro... |
ORPHA:2162 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Vici Syndrome |
|
Gray matter heterotopia, High palate, Hypotonia |
ORPHA:1493 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Neonatal hypotonia, Axial hypotonia, Dental crowding, Ataxia, Impulsivity, Aggres... |
OMIM:300967 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Inguinal hernia, Cleft palate |
ORPHA:436003 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth |
ORPHA:1790 |
Carpenter Syndrome 2 |
|
Carious teeth, High, narrow palate, Dental malocclusion, Hypotonia, Narrow palate, High palate, L... |
OMIM:614976 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Communicating hydrocephalus, Micrognathia, Aggre... |
OMIM:619841 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia, Hypotonia, Dysphagia |
ORPHA:26791 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Constricting Bands, Congenital |
|
Omphalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy |
OMIM:217100 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cleft upper lip, Dilated third ventricle, Hypotonia, Cleft palate, ... |
OMIM:304050 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the u... |
OMIM:616300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Ataxia, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathi... |
ORPHA:2750 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
Arima Syndrome |
|
Dilated fourth ventricle, Ataxia, Hypotonia, Wide mouth, Gray matter heterotopia, Generalized hyp... |
OMIM:243910 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypotonia, Cleft palate, Furrowed tongue, Downturned corners of mouth, Gray matter heterotopia, O... |
ORPHA:453499 |
Mandibuloacral Dysplasia |
|
High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of teeth |
ORPHA:2457 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Hypotonia, Dysphagia, Hypertonia, Generalized hypotonia, Dystonia, Neonatal death... |
OMIM:617248 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Cleft upper lip, Hydrocephalus, Dental malocclusion, Cleft palate, Oli... |
OMIM:305600 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve... |
ORPHA:570 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Facial hypotonia, Submucous cleft lip, H... |
OMIM:312870 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Tremor, Cleft palate, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystoni... |
ORPHA:1934 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Hypotonia, Cleft pa... |
OMIM:242840 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Ventriculomegaly, Severe muscular hypotonia, Hydrocephalus, Hypotoni... |
OMIM:615287 |
Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentitio... |
ORPHA:1507 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:157 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft ... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum |
OMIM:300534 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated fourth ventricle, Hamartoma of tongue, Accessory oral frenulum, Perive... |
ORPHA:434179 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Periventricular heterotopia, C... |
OMIM:615948 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
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 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Fraser Syndrome |
|
Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, High palate, Bifid tongue |
ORPHA:2052 |
Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, High palate |
OMIM:163950 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Abnormality of upper lip vermillion, Facial hypotonia, Micrognathia, Abnormality o... |
ORPHA:506358 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Malabsorption |
ORPHA:47 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Cleft upper lip, Cleft palate, Gray matter heterotopia, U-Sh... |
OMIM:603671 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Tented upper lip vermilion, Severe muscular hypotonia, Facial hypotonia, Hypotonia, Wide mouth, O... |
ORPHA:500533 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Gait disturbance, Attention deficit hyperactivity disorder, Ab... |
ORPHA:464311 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... |
OMIM:180700 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia |
OMIM:254940 |
Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... |
OMIM:269860 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Generalized hypotonia, Periventricular heterotopia |
OMIM:618733 |
Nijmegen Breakage Syndrome |
|
Deep philtrum, Non-midline cleft lip, Abnormality of neuronal migration, Cleft palate, Attention ... |
ORPHA:647 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
Autosomal Dominant Robinow Syndrome |
|
Inguinal hernia, Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the ... |
ORPHA:3107 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Hyperactivity, Dental crowding, Periventricular heterotopia, Micrognathia, Agg... |
OMIM:270400 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate,... |
OMIM:616145 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Rabson-Mendenhall Syndrome |
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Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Robinow Syndrome, Autosomal Recessive 1 |
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Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ... |
OMIM:268310 |
Ramos-Arroyo Syndrome |
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Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum |
ORPHA:1051 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Tarp Syndrome |
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Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Genitourinary And/Or Brain Malformation Syndrome |
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Micrognathia, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivity disorder, Lo... |
OMIM:618820 |
Loeys-Dietz Syndrome 3 |
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Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Hallermann-Streiff Syndrome |
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Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Cerebrocostomandibular Syndrome |
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Glossoptosis, Short hard palate, Cleft palate |
ORPHA:1393 |
Spondyloepiphyseal Dysplasia Congenita |
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Glossoptosis, Cleft palate |
ORPHA:94068 |
Imerslund-Gräsbeck Syndrome |
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Glossitis, Angular cheilitis |
ORPHA:35858 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Abnormal cortical gyration, Micrognathia, Hydrocephalus, Microlissencephaly, Gray matter heteroto... |
OMIM:210710 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... |
ORPHA:818 |
Marshall-Smith Syndrome |
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Eclabion, Irregular dentition, Omphalocele, Pyloric stenosis, Gingival overgrowth, Anteriorly pla... |
OMIM:602535 |
Generalized Pustular Psoriasis |
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Geographic tongue, Cheilitis |
ORPHA:247353 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Hydrolethalus Syndrome 1 |
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Median cleft lip, Abnormal cortical gyration, Micrognathia, Cleft palate, Gray matter heterotopia... |
OMIM:236680 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Micrognathia, Periventricular heterotopia, Hypotonia, Colpocephaly, Ge... |
OMIM:606170 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Charcot-Marie-Tooth Disease Type 1F |
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Tongue atrophy |
ORPHA:101085 |
Mucoepithelial Dysplasia, Hereditary |
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Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Charcot-Marie-Tooth Disease Type 4C |
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Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Meckel Syndrome, Type 1 |
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Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Intestinal malrotation, Clef... |
OMIM:249000 |
Agel Amyloidosis |
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Tongue atrophy, Xerostomia |
ORPHA:85448 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261537 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetiti... |
ORPHA:2152 |
Giant Cell Arteritis |
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Glossitis |
ORPHA:397 |
Stuve-Wiedemann Syndrome 1 |
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Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue |
OMIM:601559 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Smooth philtrum, Duodenal atresia |
OMIM:616975 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Median cleft lip, Abnormality of neuronal migration, Orofacial cleft |
ORPHA:3186 |
Bloom Syndrome |
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Malar flattening, Agenesis of maxillary lateral incisor |
OMIM:210900 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... |
ORPHA:261552 |
Distal Deletion 15Q |
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Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue |
ORPHA:1596 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... |
ORPHA:444077 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Microphthalmia, Syndromic 1 |
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Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Spastic diplegia, Oro... |
OMIM:309800 |
Cowden Syndrome |
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Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
Multiple Endocrine Neoplasia Type 2 |
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Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
Yunis-Varon Syndrome |
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Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Tongue atrophy |
ORPHA:466768 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia |
OMIM:276300 |
Glucagonoma |
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Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
Viss Syndrome |
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Chronic gastritis, Inguinal hernia, Duodenitis, Intestinal malrotation, Cleft soft palate, Submuc... |
OMIM:619472 |
Proteus Syndrome |
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Tooth agenesis, Gray matter heterotopia, Carious teeth, Abnormal dental enamel morphology |
ORPHA:744 |
Pagod Syndrome |
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Abnormality of neuronal migration |
ORPHA:991 |
Kawasaki Disease |
|
Glossitis, Cheilitis |
ORPHA:2331 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal... |
ORPHA:93271 |
Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
Plague |
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Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis |
ORPHA:707 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |