| Telecanthus |
|
Telecanthus, Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Ankyloblepharon, Cleft palate, Cleft upper lip |
OMIM:106250 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate |
ORPHA:1074 |
| 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 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Ankyloblepharon, Lip pit |
ORPHA:1072 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip, Telecanthus |
ORPHA:2007 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia |
ORPHA:2016 |
| Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b... |
OMIM:613641 |
| Anencephaly 2 |
|
Median cleft lip, Short palpebral fissure, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Thomas Syndrome |
|
Downslanted palpebral fissures, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Ptosis |
OMIM:617732 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Cleft palate |
OMIM:600331 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Bencze Syndrome |
|
Open bite, Telecanthus, Submucous cleft hard palate, Upslanted palpebral fissure |
ORPHA:1241 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
| X-Linked Intellectual Disability, Siderius Type |
|
Synophrys, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
| Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, Bifid uvula, High palate, Downslanted palpebral fissures, Iris coloboma |
OMIM:155145 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... |
OMIM:601349 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Hig... |
OMIM:300983 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia, Median cleft lip, Cleft palate |
DECIPHER:46 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Dysphagia, Wide mouth, Hypoplasia of the s... |
ORPHA:251061 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait atax... |
OMIM:609425 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypodontia, Limb dystonia, Hearing impairment |
OMIM:620270 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Cafe-au-lait spot, Low-set ears |
ORPHA:436151 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Upslanted palpebral fissure, High palate, Bifid uvula |
OMIM:300850 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
| Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Ataxia, Aggressive behavior, Hypoplastic toenails, Con... |
ORPHA:96148 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Intestinal malrotation, Dilatated internal auditory canal, Facial palsy... |
OMIM:113650 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Epicanthus, Cleft palate |
ORPHA:2015 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Velopharyngeal insufficiency, High palate |
OMIM:608363 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thin upper lip vermilion, Posteriorly rotated ears, Low-set ears, Long philtrum, Thin eyebrow, Hi... |
OMIM:618147 |
| Pai Syndrome |
|
Telecanthus, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Iris coloboma, Do... |
ORPHA:1993 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia, Torticollis |
ORPHA:71518 |
| Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
| Mmep Syndrome |
|
Median cleft lip, Orofacial cleft |
ORPHA:3434 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp... |
OMIM:225060 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia, Short philtrum |
OMIM:300928 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Downturned corners of mouth, Self-injurious behavior, L... |
OMIM:618718 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
| Zechi-Ceide Syndrome |
|
Cleft upper lip, Cleft palate, Narrow palpebral fissure, Oligodontia, Blepharophimosis, Short pal... |
OMIM:612916 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
| Orofaciodigital Syndrome Viii |
|
Telecanthus, Median cleft lip, High palate, Cleft palate |
OMIM:300484 |
| Birk-Barel Syndrome |
|
Tented upper lip vermilion, Highly arched eyebrow, High palate, Short philtrum, Long eyelashes, S... |
OMIM:612292 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Crani... |
ORPHA:268882 |
| Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
| Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
| Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Non-midline cleft lip, Cleft palate, Tooth ... |
ORPHA:1252 |
| Blepharocheilodontic Syndrome 2 |
|
Lagophthalmos, Conical tooth, Cleft lip, Ectropion of lower eyelids, Tooth agenesis, Euryblepharo... |
OMIM:617681 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Hypodon... |
OMIM:119580 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia |
OMIM:300624 |
| Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Abnormal semicir... |
ORPHA:87 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Impulsivity, Deep philtrum, Gait ataxia, Widely spaced teeth, Low-set e... |
OMIM:619717 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... |
ORPHA:251282 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Tremor, Protruding ear, High palate, Short philtrum, Abnormal repetitive manneri... |
OMIM:618342 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Dental malocclusion, Macrotia, Ab... |
OMIM:615541 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... |
OMIM:300614 |
| Usher Syndrome Type 1 |
|
Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor... |
ORPHA:231169 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Hartsfield Syndrome |
|
Telecanthus, Non-midline cleft lip, Cleft palate, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... |
OMIM:616898 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormality of the den... |
ORPHA:1794 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
| Phenobarbital Embryopathy |
|
Epicanthus, Unilateral cleft lip |
ORPHA:1919 |
| Usher Syndrome Type 3 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... |
ORPHA:231183 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Small nail, Abnormal... |
OMIM:619470 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lower ... |
OMIM:617412 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Ptosis, Highly arched eyebrow, Cleft upper lip |
OMIM:216100 |
| Intellectual Disability, Wolff Type |
|
Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, Upslanted palpebral fissure, A... |
ORPHA:3080 |
| Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Eyelid coloboma, Blepharophi... |
ORPHA:1104 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ptosis, High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c... |
ORPHA:1997 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
| Charlie M Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth |
ORPHA:1406 |
| Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Paroxysmal dystonia, Dystonia, Thick eyebrow, Highly arched eyebrow, Sp... |
OMIM:618004 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Ataxia, Thick lower lip vermi... |
OMIM:614104 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:617830 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Cleft palate |
ORPHA:2476 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal tongue physiology, Anteverted ears, Abnormal eating behavior, Tremor, Wide mouth... |
ORPHA:544254 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Inability to walk, Sensorineural hearing impairment, Optic atrophy, Cleft palate, Bifid uvula |
OMIM:618768 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Widely spaced teeth, ... |
OMIM:619092 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Prominent ear helix, Synophrys, Inability to walk, Low anterior hairlin... |
ORPHA:411986 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Synophrys, Downturned corners of mouth, Short philtrum, Smooth philtrum |
OMIM:613192 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
| Holoprosencephaly 4 |
|
Ptosis, Median cleft lip, Median cleft lip and palate |
OMIM:142946 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Gait disturbance, Increased overbit... |
OMIM:618761 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Gingival overgrowth, Dysphagia, Choreoathetosis, High pa... |
OMIM:619422 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Lower eyelid coloboma, Cleft palate, Thin vermilion border, Short philtrum, Narr... |
OMIM:608572 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Cleft palate, High palate, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity di... |
OMIM:620021 |
| Genitopalatocardiac Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:231060 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
| Superficial Siderosis |
|
Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Unsteady gait, Abnormal... |
ORPHA:247245 |
| Mehmo Syndrome |
|
Aggressive behavior, Cleft lip, Inability to walk, Cleft palate, Gait ataxia, Widely spaced teeth... |
OMIM:300148 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Bruxism, Falls, Inappropriate laughter, Dystonia, Abnormal r... |
OMIM:619150 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Tented upper lip vermilion, Optic atrophy, Gait ataxia, Prominent antihelix, Di... |
OMIM:617807 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Abnormal soft palate morphology... |
ORPHA:884 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Dow... |
OMIM:619941 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip |
OMIM:244600 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Cleft upper lip, High, narrow palate, Cleft palate, Eyelid coloboma |
OMIM:607597 |
| Christianson Syndrome |
|
Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Macrotia, Abnormal repe... |
ORPHA:85278 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Inability to walk, Downturned corners of mouth, Lobulated tongue, Short... |
OMIM:613443 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inability to walk, Wide mouth, Widely spaced teeth, Macrotia, Abnormal ... |
OMIM:619877 |
| Ogden Syndrome |
|
Abnormal head movements, Everted upper lip vermilion, Torticollis, High, narrow palate, Fine hair... |
ORPHA:276432 |
| Xq28 (MECP2) duplication |
|
Narrow mouth, Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms |
DECIPHER:45 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Long palpebral fi... |
OMIM:620183 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,... |
OMIM:123450 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Downslanted palpebral fissures, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned ... |
OMIM:620107 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Bruxism, Choreoathetosis, Dystonia, Conductive hearing impairment, Stereotypic... |
OMIM:618497 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Cleft palate |
OMIM:611867 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
| Orofaciodigital Syndrome Ix |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palat... |
OMIM:258865 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Bilateral cleft lip, Highly arc... |
OMIM:618622 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Orofacial cleft, Abnormality of skin pigmen... |
ORPHA:457260 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip |
OMIM:214300 |
| Radio-Tartaglia Syndrome |
|
Dental crowding, Tremor, High, narrow palate, Synophrys, Low anterior hairline, High palate, Shor... |
OMIM:619312 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Ankyloblepharon, Cleft palate, Sparse or absent eyelashes, Eyelid coloboma, Pop... |
ORPHA:1234 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Thick hair, Highly arched eyebrow, Conical tooth, Aggres... |
OMIM:617773 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Non-midline cleft lip, Upper eyelid coloboma, Cleft palate, Limbal... |
ORPHA:1791 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Broad-based gait, Synophrys, Coarse hair, Widely spaced teeth, Bruxism, Abnormal repe... |
OMIM:616351 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip |
OMIM:602418 |
| Acrofrontofacionasal Dysostosis |
|
Non-midline cleft lip, Cleft palate, Eyelid coloboma, Everted lower lip vermilion, High palate, D... |
ORPHA:1784 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
OMIM:309548 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... |
ORPHA:90646 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth |
OMIM:183300 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Coloboma, Cleft upper lip |
OMIM:601357 |
| Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... |
OMIM:182290 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Highly arched eyebrow, Narrow mouth, Repetitive compulsive behavior, Short philtru... |
ORPHA:352490 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, White eyebrow, C... |
ORPHA:894 |
| Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Thick eyebrow, Cleft palate |
OMIM:614226 |
| Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Ectropion of lower eyelids, Cleft palate, Eyelid coloboma, Downslanted pal... |
ORPHA:246 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
| Nager Syndrome |
|
Sparse lower eyelashes, Non-midline cleft lip, Lower eyelid coloboma, Cleft palate, Wide mouth, A... |
ORPHA:245 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Aggressive behavior, Downturned... |
OMIM:617752 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| 4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Tremor, Synophrys, Downturned corners of mouth, Self-injurious beha... |
ORPHA:238750 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Non-midline cleft lip, Cleft palate, Microdont... |
ORPHA:1915 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Low anterior hairline, Self-injurious behavior, Thick vermilion border, Thin eyebr... |
OMIM:619690 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Papilledema, Abnormality of retinal pigmentation, Impulsivity, Aggre... |
ORPHA:580 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft upper lip, Abnormality of the dentition, Cleft palat... |
ORPHA:915 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Synophrys, Cleft palate, Protruding ear, Short philtrum, Gait disturbance, Hypertrichosis |
ORPHA:85317 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Hypoplastic fifth toenail, Posteriorly rotated ears, Sev... |
OMIM:618027 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal hair quantity, Aplasia of the semicircular canal, Sen... |
ORPHA:648 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Hyperactivity, Thick eyebrow, Abnormal pinna morpho... |
OMIM:614607 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
| 17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Aggressive behavior, Synophrys, Microtia, Recurrent otiti... |
ORPHA:529962 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Tremor, Synophrys, Low anterior hairline, Oligodontia, High palate, Short philtr... |
OMIM:617061 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:620292 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Tics,... |
OMIM:617808 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, High palate, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
| Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Highly arched eyebrow, High, narrow palate, Incisor ma... |
ORPHA:166108 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Sparse eyebrow, High, narrow palate, Thick lower lip vermilion, Wide mouth, Self-injurious behavi... |
OMIM:617268 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Highly arched e... |
OMIM:600987 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dy... |
OMIM:618218 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Thin upper lip vermilion, Hyperactivity, Dystonia, Ataxia, Impulsivity, Aggress... |
OMIM:616977 |
| Schilbach-Rott Syndrome |
|
Epicanthus, Submucous cleft hard palate, Upslanted palpebral fissure, Narrow mouth, Blepharophimo... |
OMIM:164220 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Cleft upper lip, Conical tooth, Absent eyelashes, Lac... |
OMIM:106260 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Impaired pain sensati... |
OMIM:616579 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia |
OMIM:617820 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Eyelid coloboma, Downslanted palpebral fissures, Iris coloboma, Pt... |
OMIM:268850 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Facial palsy, Highly arched eyebrow... |
ORPHA:138 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention ... |
OMIM:301013 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Median cleft lip, Cleft palate, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Orofacial cleft, Wi... |
OMIM:243310 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft |
ORPHA:77300 |
| Optic Atrophy 11 |
|
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
| Autosomal Recessive Amelia |
|
Non-midline cleft lip, Orofacial cleft |
ORPHA:1027 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ataxia, Impulsivity, Aggressive behavior, Chorea, Narrow palate, Wide mouth, Athetosi... |
OMIM:619435 |
| Branchio-Oculo-Facial Syndrome |
|
Ptosis, Deep philtrum, Non-midline cleft lip, Nasolacrimal duct obstruction, Orofacial cleft, Ups... |
ORPHA:1297 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Nasolacrimal duct obstruction, Cleft upper lip |
OMIM:273400 |
| Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Cleft palate |
OMIM:248390 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula, Ectropion |
OMIM:615706 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion |
OMIM:242500 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Impulsivity, Synoph... |
OMIM:300143 |
| Buratti-Harel Syndrome |
|
Epicanthus, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Sparse medial... |
OMIM:619314 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, At... |
OMIM:618430 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, High palate, Agitatio... |
OMIM:300558 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormality of the dentition, Aggressive behavior, Synophrys, Thin vermilion borde... |
ORPHA:391307 |
| Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Thick eyebrow, Posteriorly rotated ears, Intestinal malrotation, Highly arched eye... |
OMIM:613684 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Widely-spaced maxillary central incisors, Coloboma, Median cleft pa... |
OMIM:136760 |
| 2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Aggressive behavior, Cleft palate, Fine hair, Oligodontia, Thin vermilion border... |
ORPHA:251019 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Distal Deletion 10P |
|
Non-midline cleft lip, Cleft palate, Ectopic anus, Downslanted palpebral fissures, Anal atresia |
ORPHA:1580 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Synophry... |
ORPHA:2884 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr... |
OMIM:229400 |
| Huntington Disease-Like 1 |
|
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Gait disturbance, Jerky he... |
ORPHA:157941 |
| Alazami-Yuan Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Thick eyebrow, Dental crowding, Highly arched eyebrow, N... |
OMIM:617126 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Sparse eyebrow, Deep philt... |
OMIM:612530 |
| Alazami Syndrome |
|
Abnormal eating behavior, Sparse eyebrow, Wide mouth, Thick vermilion border, Short philtrum, Wid... |
ORPHA:319671 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Att... |
OMIM:618205 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Cleft upper lip, Aggressive behavior, Cleft palate, Bifid uvula,... |
OMIM:300958 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Everted upper lip vermilion, Wide mouth, High palate, Short philtrum, Difficulty w... |
ORPHA:280763 |
| Distal Monosomy 7Q36 |
|
Wide mouth, Non-midline cleft lip, Upslanted palpebral fissure, Cleft palate |
ORPHA:1636 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Abnormal ey... |
ORPHA:2885 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Inability to walk, Cleft palate, Large earl... |
OMIM:615716 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft ... |
OMIM:601701 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Thin upper lip vermilion, Unsteady gait, Pica, High palate, Low-set ears, Recurrent hand flapping... |
OMIM:618480 |
| Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... |
OMIM:174300 |
| Meckel Syndrome, Type 5 |
|
Cleft palate, Cleft upper lip |
OMIM:611561 |
| Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Upslanted palpebral fissure, Abnormal oral ... |
ORPHA:1752 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Low anterior hairline, Widely spaced teeth, Short philtrum, Microdontia, Abnormal repe... |
OMIM:619293 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
| Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conductive hearing i... |
ORPHA:207 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Downslanted palpebr... |
ORPHA:1770 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Synophrys, Self-biting, Hi... |
ORPHA:3306 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Impulsivity, Aggressive behavior, Thick lower lip vermil... |
ORPHA:293939 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Increased ove... |
OMIM:618504 |
| Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Dental crowding, Aggressive behavior, High palate |
ORPHA:251383 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Cleft lip, Narrow mouth, Cleft palate, Downturned corner... |
OMIM:618089 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sparse hair, Abnormal repetitive mannerisms, Self-mutilation, Diastema, Gingival overgrowth, Ster... |
OMIM:212066 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, Tongue thrusting,... |
OMIM:619580 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Upslanted palpebral fissure |
ORPHA:166016 |
| Cree Mental Retardation Syndrome |
|
Coloboma, Downslanted palpebral fissures, Cleft soft palate, Ptosis |
OMIM:606851 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Carious teeth, T... |
ORPHA:10 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Tented upper lip vermilion, Ataxia, Repetitive compulsive behavior, Chorea, I... |
OMIM:300260 |
| 8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Sparse eyebro... |
ORPHA:178303 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Tented upper lip vermilion, Chorea, High palate, Low-set ears, Bruxism, Macrotia |
OMIM:620149 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow mouth, Microglossia,... |
ORPHA:990 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Inability to walk, Bilateral conductive hearing impairment, Long eyelashes, Low-set ... |
OMIM:617802 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Cleft palate, Self-injurious behavior, Abnormal toena... |
ORPHA:494 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Dental malocclusion, Wide mouth, High ... |
OMIM:610883 |
| Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Dental crowding, Aggressive behavior, High palate |
OMIM:300831 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Synophrys, Pica, Low ante... |
OMIM:617796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Choreoathetosis, High palate, Shuffling g... |
OMIM:300055 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft palate, Cleft upper lip |
OMIM:244200 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Highly arched eyebrow, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion ... |
OMIM:615834 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... |
ORPHA:95433 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Abnormal eyelid morphology, High, narrow palate, Supernumerary tooth, Oligodont... |
ORPHA:1787 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Curly hair, Aggressive behav... |
OMIM:620075 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Cleft upper lip, Conical tooth, Carious teeth, Velopha... |
OMIM:129400 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter... |
OMIM:119500 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Cleft upper... |
ORPHA:3253 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Upper eyelid coloboma, Cleft p... |
OMIM:154500 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Macrodontia, Ataxia, Highly arched eyebrow, Synophrys,... |
ORPHA:228402 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, High p... |
OMIM:619736 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Eve... |
OMIM:617101 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Posteriorly rotated ears, Ataxia, Protruding tongue, Prominent crus of helix, Inability... |
OMIM:617804 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Wi... |
OMIM:103050 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Low anterior hairline... |
ORPHA:369891 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Epicanthus, Cleft palate, Cleft upper lip |
OMIM:312150 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... |
ORPHA:50815 |
| Bamforth-Lazarus Syndrome |
|
Cleft palate |
OMIM:241850 |
| Schisis Association |
|
Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate |
ORPHA:63862 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Scissor gait, Truncal ataxi... |
OMIM:619121 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... |
OMIM:239300 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Cleft palate, Cleft upper lip |
ORPHA:96181 |
| Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Almond-shaped palpebral fissure, Epiblepharon, Thick lower lip vermilion, Submucous cleft hard pa... |
OMIM:619103 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Alopecia, Posteriorly rotated ears, Ataxia, Wide anterior fontanel, Self-injurious... |
OMIM:601853 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hear... |
OMIM:600430 |
| Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Low posterior hairline, Downturned corners of mouth, Self-injurious beh... |
OMIM:613174 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft palate, Cleft upper lip |
OMIM:601076 |
| W Syndrome |
|
Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Broad uvula, Dow... |
ORPHA:2804 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Cleft palate, Cleft upper lip |
OMIM:239800 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Tooth agenesis, Iris coloboma, Cleft palate, Cleft upper lip |
OMIM:147950 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto... |
OMIM:600795 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Thick eyebrow, Intestinal malrotation, Highly arched eyebrow, Bilateral... |
OMIM:614701 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long eyelashes, Long philtr... |
OMIM:618529 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:895 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormality of the ear, Downturned corners of mouth, Thick vermil... |
ORPHA:391372 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Median cleft lip, Cleft palate |
ORPHA:2165 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Highly arched eyebrow, Sensorineural hearing impairment, Synophrys, Low-set ears, ... |
OMIM:617751 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
| Foxg1 Syndrome |
|
Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive ma... |
ORPHA:561854 |
| Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, ... |
OMIM:619339 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Ataxia, Aggressive behavior, Hair-pulling, Downturned corners of mout... |
OMIM:616393 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate |
ORPHA:2003 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Thick lower lip vermilion,... |
OMIM:300354 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Cleft upper lip |
OMIM:613885 |
| 3Mc Syndrome 2 |
|
Highly arched eyebrow, Cleft upper lip, Cleft palate, Downturned corners of mouth, High palate, B... |
OMIM:265050 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment |
ORPHA:369939 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Highly arched eyebrow, Aggressive... |
OMIM:618825 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| 3Mc Syndrome 3 |
|
Highly arched eyebrow, Cleft upper lip, Cleft palate, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Dental crowding, Conical... |
OMIM:612313 |
| Microphthalmia With Limb Anomalies |
|
Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Cleft palate, High palate, Blepharop... |
OMIM:206920 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Thick eyebrow, Exaggerated cupid's bow, Supernumerary nipple, Aggressive behavior, Sparse eyebrow... |
OMIM:620098 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... |
OMIM:616364 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft upper lip, Cleft palate, Conjunctivitis, Distichiasis, Ptosis |
ORPHA:33001 |
| Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Long eyelashes, S-shaped p... |
OMIM:201180 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Cleft palate, Ankyl... |
ORPHA:1300 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices... |
OMIM:300352 |
| Naxos Disease |
|
Cleft upper lip |
ORPHA:34217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Thin upper lip vermilion, Hyperactivity, Gait ataxia, Short philtrum, Macrotia, Abnormal repetiti... |
OMIM:300486 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Narrow mouth, Chorea, Inability to walk, Choreoathetosis, Dystonia, Abnormal repetitive m... |
OMIM:619317 |
| Fg Syndrome 3 |
|
Hyperactivity, Pyloric stenosis, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ... |
OMIM:300406 |
| Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Thick eyebrow, Cleft upper lip, Synophrys, Cleft palate, Wide mouth, Downslanted palp... |
ORPHA:1394 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct |
ORPHA:18 |
| 22Q11.2 Duplication Syndrome |
|
Cleft palate, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... |
ORPHA:1727 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Hooded eyelid, Sparse eyelashes, High, n... |
OMIM:612863 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C... |
ORPHA:2890 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Tented upper lip vermilion, Ataxia, Aggressive behavior, Bulimia, Self-biting, Dow... |
OMIM:300912 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ataxia, High, narrow palate, Sensorineural hearing impairment, Deep phi... |
ORPHA:435638 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements |
OMIM:245348 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Cleft palate, Brachial plexus neuropathy, Lo... |
OMIM:162100 |
| Split-Hand/Foot Malformation 3 |
|
Ridged nail, Abnormal pinna morphology, Cleft palate, High palate, Nail dystrophy, Nail dysplasia... |
OMIM:246560 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... |
ORPHA:401777 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bo... |
OMIM:608670 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... |
OMIM:147250 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Lacrimal duct atresia, Hypodontia, Cleft palate |
OMIM:603543 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... |
OMIM:200990 |
| Branchiootic Syndrome |
|
Facial palsy, Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft pala... |
ORPHA:52429 |
| Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Downslanted ... |
ORPHA:236 |
| Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Impaired pain sen... |
ORPHA:819 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Cupped ear, Mandi... |
OMIM:602483 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Wide mouth, Inappr... |
ORPHA:411515 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Hypoplastic fifth toenail, Ataxia, Supernumerary nipple, Aggressive beh... |
ORPHA:457279 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... |
ORPHA:897 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:612561 |
| Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Telecanthus, Cleft upper lip, Rectourethral fistula, Cleft palate, High... |
OMIM:300000 |
| Zechi-Ceide Syndrome |
|
Thick hair, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners of mouth, Ol... |
ORPHA:217017 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Ataxia, Cleft palate, Compulsive behaviors, Attention deficit hyperactivity ... |
OMIM:615656 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Narrow palate, Recurrent hand fla... |
OMIM:615516 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Renal Agenesis, Bilateral |
|
Epicanthus, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine mo... |
ORPHA:1848 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:609924 |
| Orofaciodigital Syndrome X |
|
Telecanthus, Cleft palate |
OMIM:165590 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa... |
OMIM:301029 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Senso... |
ORPHA:217085 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Tented upper lip vermilion, Dental crowding, Telecanthus, Cleft upper lip, High palat... |
OMIM:612582 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Everted ... |
ORPHA:261144 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Chorea, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula, Ptosis |
OMIM:114300 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Senso... |
ORPHA:217093 |
| Saethre-Chotzen Syndrome |
|
Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ... |
ORPHA:794 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Prominent crus of he... |
OMIM:619695 |
| Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft palate, Eyelid colobo... |
OMIM:263750 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactiv... |
OMIM:618906 |
| Retinal Dystrophy With Leukodystrophy |
|
Waddling gait, Truncal titubation, Prominent ear helix, Dysmetria, Cleft palate, Falls |
OMIM:618863 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cleft palate, Wide mouth, Cyc... |
ORPHA:261236 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Hypoplastic toenails, Toenail dysplasia, Impaired pain sen... |
OMIM:606232 |
| 1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low posterior hairlin... |
OMIM:615802 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Dental crowding, Highly arched eyebrow, Cleft upper lip... |
OMIM:257920 |
| Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, High palate, Generalized hirsutism, Hyperactivity, Brow ptosis, ... |
OMIM:605130 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavio... |
OMIM:619680 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Highly arched eyebrow, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
ORPHA:500159 |
| Bamforth-Lazarus Syndrome |
|
Cleft palate |
ORPHA:1226 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Tented upper lip vermilion, Exaggerated startle response, Optic atrophy, Short phi... |
OMIM:617281 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ectopic anus, Short mandibular ... |
ORPHA:2549 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Protruding tongue, Aggressi... |
OMIM:610253 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Sparse eyebrow, Optic atrophy, Hirsutism, Widely spaced teeth, Dysphagia, Macro... |
ORPHA:496641 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism,... |
OMIM:613454 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Sparse ... |
ORPHA:69085 |
| Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Protruding tongue, Abnormal ea... |
ORPHA:98794 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip |
OMIM:617926 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Choreoathetosis, Attention defi... |
ORPHA:261197 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic atrophy, Narrow pal... |
ORPHA:313892 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Ataxia, Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion bor... |
OMIM:300986 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Abnormal hair pattern, Aggressive behavior, Open bite, Tremor, S... |
ORPHA:85293 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Protruding ear, Everted lower lip vermilion, High palat... |
ORPHA:2479 |
| Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Non-midline cleft lip, Downslanted palpebral fissures, Cleft palate |
ORPHA:2075 |
| 9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Abnormality of cartilage of external ear, Hypoplastic to... |
ORPHA:324313 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Thick vermilion border, Abnormal temper tantrums, Abnormal ... |
ORPHA:530983 |
| Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears,... |
OMIM:301069 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... |
OMIM:617865 |
| Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Paresthesia, Ti... |
ORPHA:93921 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, High, narrow palate, Wide mouth, Large earlobe, Thin vermilion border... |
ORPHA:485405 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Protruding tongue, Abnormal eating behavior, ... |
ORPHA:411511 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Ptosis |
ORPHA:2511 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s... |
OMIM:610706 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Accessory oral frenulum, Overfolded helix, Cleft palate, Abnormal antihelix morpho... |
ORPHA:79113 |
| Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
| Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated t... |
OMIM:252100 |
| Piebald Trait |
|
Aganglionic megacolon, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Ab... |
OMIM:172800 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Facial palsy, Carious teeth, Absent eyelashes, Cleft palate, Protruding... |
ORPHA:2316 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Thick eyebrow, Pain insensitivity, Aggress... |
OMIM:300534 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Abnormal repetitive mannerisms, Self-injurious behavior, High palate |
ORPHA:397612 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Blepharophimosis, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Synophrys, High palate, Sparse hair, Abnormal repetitive mannerisms, Highly arch... |
OMIM:615485 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft upper lip, Cleft palate, Conjunctivitis, Distichiasis, Ptosis |
OMIM:153400 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Synophrys, Abnormal cranial... |
ORPHA:90024 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Posteriorly rotated ears, Ataxia, ... |
OMIM:619229 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Curved linear dimple below the lower lip, Hypodontia, Downslanted ... |
OMIM:305400 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Short philtrum, Open mouth, Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:228384 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Synophrys, Downturned corners of mouth, Wide mouth, E... |
OMIM:618067 |
| White-Sutton Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal ... |
ORPHA:468678 |
| Pitt-Hopkins Syndrome |
|
Hyperconvex nail, Supernumerary nipple, Deep philtrum, Cupped ear, Gait ataxia, Wide mouth, Self-... |
OMIM:610954 |
| Hydrolethalus |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hand tremor, Protruding ear, Downturned corners of mouth, Dysmetria, Gait ataxia, High... |
OMIM:614756 |
| Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:615849 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Cleft palate |
ORPHA:1135 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... |
ORPHA:3378 |
| Native American Myopathy |
|
Bilateral ptosis, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft pa... |
ORPHA:168572 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Spa... |
OMIM:619720 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Cupped ear, Cleft... |
OMIM:616367 |
| Charge Syndrome |
|
Mixed hearing impairment, Anal stenosis, Facial palsy, Cleft upper lip, Aplasia of the semicircul... |
OMIM:214800 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Dysmetria, Abnormal optic disc morphology, Short philtrum, High palate, C... |
ORPHA:96121 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Deep philtrum, Synophrys, Dysmetria, Gait ataxia, Downturned corners of mouth, Small earlobe, Abn... |
OMIM:617330 |
| Constricting Bands, Congenital |
|
Eyelid coloboma, Cleft palate, Cleft upper lip |
OMIM:217100 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Dental crowding, Hooded eyelid, Submucous cleft lip, Cleft palate, Ups... |
ORPHA:96170 |
| Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Thick lower lip vermilion, Tongue thrus... |
ORPHA:261323 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... |
ORPHA:300570 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Thick eyebrow, Aggressive behavior, Synophrys, Thick lower lip vermi... |
OMIM:252940 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Curly eyelashes, Cleft lip, Sensorineural hearing impairm... |
OMIM:301022 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Wide mouth, Fusion of midd... |
OMIM:157800 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Synophrys, Gingival overgrowth, Fine hair, Head tremor, Long philtrum, Abnormal repetitiv... |
OMIM:619428 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252920 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft upper lip, Synophrys, Cleft palate, Thin vermilion border, Down... |
OMIM:614294 |
| Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Cleft upper lip, Cleft palate, Downturned corners of mouth,... |
OMIM:601808 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:614838 |
| Aase-Smith Syndrome I |
|
Death in infancy, Open mouth, Cleft palate |
OMIM:147800 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ... |
ORPHA:43 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp... |
ORPHA:297 |
| Triploidy |
|
Intestinal malrotation, Non-midline cleft lip, Cleft palate, Wide mouth, Macroglossia, Narrow mou... |
ORPHA:3376 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior, ... |
OMIM:620023 |
| Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Hypopigmentation of the skin, Fair hair, Ataxia, Broad-based ga... |
ORPHA:72 |
| Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Impulsivity, Abnormality of the dentition, Aggressive behavior, Highly arched eyeb... |
ORPHA:363528 |
| 19P13.3 Microduplication Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Cleft palate, Self-injurious behavior, Microtia, Thick v... |
ORPHA:447980 |
| Acromelic Frontonasal Dysplasia |
|
Telecanthus, Median cleft lip, Wide mouth, Median cleft palate, Ptosis |
ORPHA:1827 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Synophrys, Hypertrichosis, Coarse hair, Everted lower lip vermilion, Dysphagia, Hi... |
OMIM:252930 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| 2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Pyloric stenosis,... |
ORPHA:1001 |
| Myhre Syndrome |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio... |
ORPHA:2588 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Abnormal pinna morphology, Impaired pain sensation, Orofacial cleft, Multiple cafe... |
ORPHA:261211 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe... |
OMIM:619725 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Epicanthus, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cl... |
OMIM:117650 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Inability to walk, Sensorineural hearing impairment, Self-injurious behavi... |
ORPHA:457351 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hyperactivity, Hypermelanotic macule, Abnormality of the dentition, Wide mouth, Cafe-au-lait spot... |
OMIM:618505 |
| 13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Impaired pain sensation, Oligodontia, Chronic otitis med... |
ORPHA:412035 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip... |
ORPHA:861 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Selective tooth agenesis, Cleft upper lip, Carious teeth, Blepharophimosis, Cleft pal... |
OMIM:164200 |
| Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Dental crowding, Cleft helix, Hamar... |
ORPHA:137888 |
| Orofaciodigital Syndrome I |
|
Epicanthus, Median cleft lip, Telecanthus, Hamartoma of tongue, Cleft upper lip, Carious teeth, S... |
OMIM:311200 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Synophrys, Narrow ... |
OMIM:616078 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Wide anterior fontanel, Abnormal earlobe morphology, Cleft palate, Anterior creases... |
ORPHA:116 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebral fissure, Sh... |
OMIM:613680 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of max... |
ORPHA:2751 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
| Zaki Syndrome |
|
Sparse eyebrow, Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Sparse lateral e... |
OMIM:619648 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Cleft upper lip, Pyloric stenosis, Narrow palate, Cleft palate, Upslanted palpebral f... |
OMIM:610443 |
| Galloway-Mowat Syndrome 6 |
|
Downturned corners of mouth, Wide mouth, High palate, Microdontia, Abnormal repetitive mannerisms... |
OMIM:618347 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, External ear malformation, Sensorineural hearing impairment, Synophrys, Cleft pala... |
ORPHA:254346 |
| Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwanno... |
ORPHA:252164 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hyperactivity, Congenital sensorineural hearing impairment, Sensorineu... |
ORPHA:73272 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Epicanthus, Non-midline cleft lip, Cleft palate |
ORPHA:1908 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aplasia/Hypoplasia... |
ORPHA:3440 |
| Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Abnormal repetitive mannerisms, Self-injurious behavior, High palate |
OMIM:615637 |
| Schwannomatosis, Vestibular |
|
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... |
OMIM:101000 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... |
ORPHA:3214 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Dysphagia, Loss of ambulation, Abnormal repetitive man... |
ORPHA:79264 |
| Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Dystonia, Peripheral axonal neuropathy, Ataxia, Impulsivity, Unsteady gait, Optic ... |
ORPHA:35069 |
| Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Broad-based gait, Aggressive behavior, Sensorineural hea... |
OMIM:609625 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Exaggerated cupid's bow, Narrow mouth, Sensorineural hea... |
OMIM:619512 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Highly arched eye... |
ORPHA:261494 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Synophry... |
OMIM:300990 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Epicanthus, Intestinal malrotation, Cleft upper lip, Narrow palate, Upsla... |
OMIM:605039 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, High, narrow palate, Submucous cleft hard palate, Cleft pa... |
ORPHA:2780 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252900 |
| Hydroxykynureninuria |
|
Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Orofaciodigital Syndrome Vi |
|
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomple... |
OMIM:277170 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment... |
ORPHA:66634 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate, Highly arched eyebrow, Ptosis |
ORPHA:2282 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric sten... |
OMIM:305450 |
| Rett Syndrome |
|
Inability to walk, Agitation, Abnormal autonomic nervous system physiology, Gait disturbance, Dys... |
ORPHA:778 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Deep philtrum, Hig... |
OMIM:309520 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
| Recombinant 8 Syndrome |
|
Cleft upper lip, Abnormality of the dentition, Gingival overgrowth, Cleft palate, Downturned corn... |
ORPHA:96167 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Synophrys, Dysphagia, High palate, ... |
ORPHA:319182 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Non-... |
ORPHA:2059 |
| Branchioskeletogenital Syndrome |
|
Telecanthus, Unilateral cleft palate, Highly arched eyebrow, Abnormality of the dentition, Cariou... |
ORPHA:1299 |
| Double Outlet Right Ventricle |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow palpebral fissure, Narr... |
ORPHA:3426 |
| Mucopolysaccharidosis Type 3 |
|
Synophrys, Coarse hair, Otitis media, Thickened helices, Conductive hearing impairment, Chronic o... |
ORPHA:581 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, Sparse... |
OMIM:234100 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Sensorineural hearing impairment, Impaired vibratory sensation, Hiatus hernia |
OMIM:609727 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Short philtrum,... |
OMIM:619475 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Synophrys, Cleft palate, Upslanted... |
OMIM:610828 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Anal stenosis, Ablepharon, Cleft upper lip, Cicatricial lagophthalmos, Absent eye... |
OMIM:263650 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, Blue irides, Limb tremor, Wide mouth,... |
OMIM:105830 |
| Hyperlysinemia |
|
Hyperactivity, Tremor, Dysmetria, Opisthotonus, Tip-toe gait, High palate, Thin eyebrow, Dysphagi... |
ORPHA:2203 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Wide mouth, Median pseudocleft lip, Upslanted palpebral fissure, Ptosis |
OMIM:619758 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Ataxia, Highly arched eyebrow, Protruding tongue, Aggressive be... |
OMIM:213300 |
| Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of hair pigmentation, Low-set ears,... |
OMIM:618156 |
| Kapur-Toriello Syndrome |
|
Intestinal malrotation, Cleft upper lip, Cleft palate, Retinal coloboma, Iris coloboma |
OMIM:244300 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Broad-based gait, Repetitive compulsive behavior, Abnormality of the... |
ORPHA:513456 |
| Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Curly eyelashes, Cleft upper lip, Malrotatio... |
OMIM:122470 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Inability to walk, Dysmetria, Gait disturban... |
ORPHA:139396 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Aggressive behavior, Tremor, Synophrys, Gait ataxi... |
ORPHA:476126 |
| Omodysplasia 2 |
|
Tented upper lip vermilion, Bilateral cleft lip, Cleft palate, Long philtrum |
OMIM:164745 |
| Acromelic Frontonasal Dysostosis |
|
Telecanthus, Remnants of the hyaloid vascular system, Cleft upper lip, Cleft palate, U-Shaped upp... |
OMIM:603671 |
| Seckel Syndrome 1 |
|
Hyperactivity, Abnormal pinna morphology, Selective tooth agenesis, Dental crowding, Dental maloc... |
OMIM:210600 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Ataxia, Highly arched eyebrow, Protruding tongue, Synophrys, Cupped ear... |
OMIM:617062 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, N... |
OMIM:192430 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Few cafe-au-lait spots, Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwan... |
OMIM:162260 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Sho... |
OMIM:619575 |
| Orofaciodigital Syndrome Type 1 |
|
Epicanthus, Median cleft lip, Telecanthus, Abnormal dental enamel morphology, Accessory oral fren... |
ORPHA:2750 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Unilateral cleft lip, Cleft palate |
OMIM:616897 |
| Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Epicanthus, Cleft upper lip, Cleft palate, Thick v... |
OMIM:242840 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Thin upper lip vermilion, Nail-biting, Dystonia, Posteriorly rotated ears... |
OMIM:620330 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Ileus, Athetosis, Dystonia, Open mouth, Sel... |
ORPHA:52503 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, High palate, Attention deficit hype... |
OMIM:620242 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Abnormal repetitive mannerisms, Synophrys, Thick lower lip vermilion, G... |
OMIM:619297 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Poster... |
OMIM:619148 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cleft palate, Death in childhood |
OMIM:600460 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Upslanted palpebral fissure, Cyclopia, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
| Thoracoabdominal Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:313850 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Downturned corners of m... |
ORPHA:369837 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Carious teeth, Velopharyngeal insufficiency, ... |
OMIM:223370 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Narrow mouth, Cupped ear, Thic... |
OMIM:309590 |
| Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
| Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Hyperactivity, Cleft palate, Protrud... |
ORPHA:3379 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Death in infancy, Cleft palate, Cleft upper lip |
OMIM:613150 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Cleft upper lip, Synophrys, Gingival overgrowth, Cleft palate,... |
OMIM:213980 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Anteriorly placed anus, High palate, Low-set ears, D... |
OMIM:618653 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... |
OMIM:616300 |
| Tolchin-Le Caignec Syndrome |
|
Thick eyebrow, Hooded eyelid, Submucous cleft hard palate, Nasolacrimal duct obstruction, High pa... |
OMIM:618971 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology,... |
ORPHA:2671 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Cleft upper lip,... |
OMIM:300373 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate, Upslanted pa... |
OMIM:616145 |
| Holoprosencephaly |
|
Ptosis, Thick eyebrow, Median cleft lip, Epicanthus, Bilateral cleft lip, Highly arched eyebrow, ... |
ORPHA:2162 |
| You-Hoover-Fong Syndrome |
|
Ataxia, Accessory oral frenulum, Cleft palate, Paroxysmal bursts of laughter, Hearing impairment |
OMIM:616954 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Protruding tongue, Diastema, Sensorineural hearing impairment, Thick lo... |
OMIM:301040 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... |
ORPHA:168491 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ... |
ORPHA:233 |
| Acrocardiofacial Syndrome |
|
Anal atresia, Long eyelashes, Cleft palate, Cleft upper lip |
ORPHA:2008 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Epicanthus, Cleft upper lip, Deep philtrum, Cleft pal... |
OMIM:251260 |
| Arboleda-Tham Syndrome |
|
Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otitis media, Small earlobe... |
OMIM:616268 |
| Meckel Syndrome, Type 6 |
|
Cleft palate, Cleft upper lip |
OMIM:612284 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
| Craniofrontonasal Syndrome |
|
Telecanthus, Abnormality of the dentition, Cleft upper lip, Cleft palate, Downslanted palpebral f... |
OMIM:304110 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypopigmentation of the skin, Posteriorly rotated ears, Aggressive behavior, Cleft lip, Synophrys... |
OMIM:301066 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Atresia of the external audi... |
ORPHA:2306 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Abnormality of the dentition, Open bite, Absent eyelashes, Deep philt... |
OMIM:115150 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Sensorineural hearing impairment, Chorea, Abnorm... |
ORPHA:209905 |
| Nail-Patella Syndrome |
|
Ptosis, Antecubital pterygium, Cleft palate, Cleft upper lip |
OMIM:161200 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Synophrys, Protruding ear, Low-set ears, Dysphagia, Abnormal repetit... |
ORPHA:447997 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Downturned corners of... |
OMIM:301030 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Median cleft lip, Abnormal dental enamel morphology, Premature loss of primary teeth,... |
ORPHA:2710 |
| Desmosterolosis |
|
Epicanthus, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Down... |
ORPHA:35107 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Ankyloblepharon, Thick upper lip vermilion, M... |
OMIM:612651 |
| 47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Low-set ears, Attention deficit hyperactivity disorder |
ORPHA:8 |
| Hartsfield Syndrome |
|
Epicanthus, Median cleft lip, Cleft palate, Cleft upper lip |
OMIM:615465 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
| 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 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, High palate, Short philtrum, Attention deficit hyperactivity disorder, A... |
OMIM:618354 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing... |
ORPHA:637 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:608747 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Cupped ear, Oral ulcer, Downturned corners of mouth, Amelogenesis imperfecta, Hypo... |
OMIM:617052 |
| Faciocardiorenal Syndrome |
|
Smooth philtrum, Hypodontia, Cleft palate, Narrow mouth |
ORPHA:1973 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Sparse eyelashes, Cleft upper l... |
OMIM:604292 |
| Legius Syndrome |
|
Hyperactivity, Inguinal freckling, Axillary freckling, Neurofibroma, Vestibular schwannoma, Atten... |
ORPHA:137605 |
| Trisomy 18 |
|
Epicanthus, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Narrow mouth,... |
ORPHA:3380 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
| Prader-Willi Syndrome Due To Translocation |
|
Downturned corners of mouth, High palate, Compulsive behaviors, Hypopigmentation of the skin, Abn... |
ORPHA:177907 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Pentalogy Of Cantrell |
|
Cleft palate, Non-midline cleft lip, Orofacial cleft |
ORPHA:1335 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Absence of Stensen duct, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip... |
OMIM:129900 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms, Ataxia |
ORPHA:927 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Asymmetry of the mouth, Aggressive behavior, ... |
ORPHA:401973 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Pyloric stenosis, Protruding ear, Gait disturbance, Macrotia, A... |
ORPHA:464306 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Ataxia |
ORPHA:760 |
| Kyphomelic Dysplasia |
|
Pterygium, Cleft palate, Cleft upper lip |
OMIM:211350 |
| Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Optic disc coloboma, Cleft p... |
ORPHA:50 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris... |
OMIM:619539 |
| Stickler Syndrome, Type I |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:108300 |
| Cardiofaciocutaneous Syndrome |
|
Epicanthus, Abnormal eyelash morphology, Submucous cleft hard palate, Sparse or absent eyelashes,... |
ORPHA:1340 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Aganglionic megacolon, Generalized hypertri... |
ORPHA:798 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Smo... |
OMIM:619321 |
| Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Sensorineural hearing impairment, Rectal prolapse, Hirs... |
OMIM:235510 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Hyperactivity, Sparse scalp hair, Posteriorly rotated ears, Loose anagen hair, High p... |
OMIM:607721 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Brittle Cornea Syndrome |
|
Abnormality of the dentition, Sensorineural hearing impairment, Abnormality of hair pigmentation,... |
ORPHA:90354 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Abnormality of the philtrum, Highly arched eyebrow, Cleft upper lip, Cleft palate, Do... |
ORPHA:280 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, Ab... |
ORPHA:464311 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Highly arched eyebrow, Synop... |
OMIM:301044 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:610217 |
| Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, High palate, Abnormal repetitive mannerisms, Si... |
OMIM:619325 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Sparse lower eyelashes, Cleft upper lip, Velopharyngeal insufficiency, Low... |
OMIM:154400 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilateral cleft lip and ... |
OMIM:610829 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavio... |
ORPHA:522077 |
| Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Macrodontia, Cleft upper lip, Cleft palate, Thin vermilion border, H... |
ORPHA:1106 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach polyps, Orbital cyst, ... |
OMIM:109400 |
| H Syndrome |
|
Abnormal eyebrow morphology, Malabsorption, Cleft upper lip, Gingival overgrowth, Upper eyelid edema |
ORPHA:168569 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... |
OMIM:229850 |
| Distal Deletion 12Q |
|
Hyperactivity, Median cleft lip, Impaired pain sensation, Prominent ear helix, High, narrow palat... |
ORPHA:96149 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Self-injurious beha... |
ORPHA:468631 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
| Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
| Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased am... |
ORPHA:2388 |
| Walker-Warburg Syndrome |
|
Iris coloboma, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Sparse scalp hair, Thick eyeb... |
ORPHA:1465 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Abnormal eyelid morphology, Deep philtrum, Non-midline cleft lip, Cleft palate, Up... |
ORPHA:647 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Esophagitis, Hiatus hernia |
ORPHA:71272 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate |
OMIM:222765 |
| Vacterl/Vater Association |
|
Anal atresia, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate |
ORPHA:887 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Periodontitis, Compulsive behaviors, ... |
ORPHA:534 |
| Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance, Malabsorption |
ORPHA:213 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Epicanthus, Telecanthus, Abnormality of the dentition, ... |
ORPHA:235 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... |
OMIM:269860 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
| Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Impulsivity, Persistence of primary teeth, Celiac disease, Cariou... |
ORPHA:2044 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Epicanthus, Deep philtrum, Submucous cleft hard palate, Thin lower lip ... |
OMIM:619194 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Cleft soft palate |
OMIM:614557 |
| Oculopalatocerebral Syndrome |
|
Cleft palate |
OMIM:257910 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Absent eyebrow, Dental crowding, Cleft upper lip, Absent eye... |
OMIM:219000 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Synophrys, Chorea, Gingival overgrowth, Gait ataxi... |
OMIM:619777 |
| Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
| Stickler Syndrome |
|
Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft pal... |
ORPHA:828 |
| Primrose Syndrome |
|
Synophrys, Downturned corners of mouth, High palate, Tics, Torus palatinus, Dystrophic fingernail... |
OMIM:259050 |
| Diamond-Blackfan Anemia |
|
Epicanthus, Cleft soft palate, Cleft lip, High palate, Adenocarcinoma of the colon, Ptosis |
ORPHA:124 |
| 1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Pyloric stenosis, Sensorineural h... |
ORPHA:1606 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Wide mouth, Upslanted palpebral fissure, Widely spaced teet... |
OMIM:300967 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiolog... |
OMIM:256800 |
| Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal var... |
OMIM:301068 |
| Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Impulsivity, Aggressive beha... |
ORPHA:353281 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Hirsutism, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Maternal Phenylketonuria |
|
Hyperactivity, Esophageal atresia, High palate, Long philtrum, Hypoplastic helices |
ORPHA:2209 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglo... |
OMIM:617088 |
| Zttk Syndrome |
|
Epicanthus, Abnormality of the dentition, Sparse eyebrow, Submucous cleft hard palate, Downturned... |
OMIM:617140 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Dental crowding, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Dent... |
ORPHA:48652 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Hyperpigmentation of the skin, Ataxia, Akinesia, Tremor, Optic atrophy, ... |
OMIM:234200 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Blepharophimosis, Bifi... |
ORPHA:2461 |
| Pilarowski-Bjornsson Syndrome |
|
Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow |
OMIM:617682 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Highly arched eyebrow, Frontal balding, Tremor, Sensorineural hearing i... |
OMIM:612474 |
| Holoprosencephaly 14 |
|
Cleft lip, Cyclopia, Median cleft lip, Cleft palate |
OMIM:619895 |
| Larsen Syndrome |
|
Shallow orbits, Hypodontia, Cleft palate, Cleft upper lip |
OMIM:150250 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Thick eyebrow |
ORPHA:529965 |
| Diamond-Blackfan Anemia 1 |
|
Epicanthus, Cleft upper lip, Cleft palate, Colon cancer, High palate, Downslanted palpebral fissures |
OMIM:105650 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Facial palsy, Optic nerve hypoplasia, Hypertrichosis, Abnormal optic di... |
ORPHA:508498 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, High, narrow palate, ... |
ORPHA:2658 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Highly arched eyebrow, Impaired pain sensation, High palate, Thick vermilion bor... |
OMIM:619005 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Deep philtrum, Synophrys, Downturned corners of mouth, High palate, Medial flari... |
OMIM:619503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Coloboma, Cleft palate, Cleft upper lip |
OMIM:236670 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
| Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms |
ORPHA:168782 |
| Ogden Syndrome |
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Deep philtrum, Protruding ear, Short philtrum, High palate, Abnormal repetitive mannerisms, Thick... |
OMIM:300855 |
| Wolf-Hirschhorn Syndrome |
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Epicanthus, Highly arched eyebrow, Cleft upper lip, Malrotation of small bowel, Cleft palate, Oro... |
OMIM:194190 |
| Aicardi Syndrome |
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Hiatus hernia, Cleft upper lip, Optic disc coloboma, Cleft palate, Sparse lateral eyebrow |
OMIM:304050 |
| Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Thick eyebrow, Remnants of the hyaloid vascular system, Persistence of... |
OMIM:300166 |
| Mend Syndrome |
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Hyperactivity, Posteriorly rotated ears, Spotty hypopigmentation, High palate, Low-set ears, Over... |
OMIM:300960 |
| Fraser Syndrome |
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Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Lacrimal d... |
ORPHA:2052 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Abnormal nasolacrimal system morphology, Submucous cleft hard palate, Bifid uvula, Blepharophimos... |
ORPHA:3047 |
| Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Thick lower lip vermilion, Abnormal repetitive mannerisms |
OMIM:300672 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Stillbirth, Cleft upper lip |
OMIM:308050 |
| Simpson-Golabi-Behmel Syndrome |
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Epicanthus, Cleft upper lip, High, narrow palate, Cleft palate, Wide mouth, Macroglossia, Downsla... |
ORPHA:373 |
| Chromosome 1P36 Deletion Syndrome, Distal |
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Epicanthus, Cleft upper lip, Synophrys, Submucous cleft hard palate, Optic disc coloboma, Orofaci... |
OMIM:607872 |
| Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft l... |
OMIM:157170 |
| Tetraamelia Syndrome 1 |
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Anal atresia, Cleft palate, Cleft upper lip |
OMIM:273395 |
| Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
| Peters-Plus Syndrome |
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Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Hy... |
OMIM:309580 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Cyclopia, Median cleft lip, Iris coloboma, Orofacial cleft |
ORPHA:3186 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Posteriorly rotated ears, Carious teeth, Hypoplastic toenails, Down... |
OMIM:619522 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Upslanted palpebral fissure, Widely spa... |
ORPHA:268261 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... |
ORPHA:353277 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cleft upper lip, Swollen lip, Absent eyelashes, Thick lower lip vermilion, Cleft pala... |
OMIM:256520 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Entropion, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Submucous cleft hard ... |
OMIM:275210 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Impaired temperature sensation, Painless fractures due to injury, Premature loss of teeth, Self-m... |
ORPHA:642 |
| Costello Syndrome |
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Deep-set nails, Curly hair, Posteriorly rotated ears, Thin nail, Concave nail, Pyloric stenosis, ... |
OMIM:218040 |
| Nmda Receptor Encephalitis |
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Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, Opis... |
ORPHA:217253 |
| Peters Plus Syndrome |
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Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cleft pal... |
ORPHA:709 |
| Ear-Patella-Short Stature Syndrome |
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High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo... |
ORPHA:2554 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Narrow mouth, Inability to walk, Gingival overgrowth, Opisthotonus, Long philtrum, Open mouth, Ab... |
ORPHA:508533 |
| Branchiooculofacial Syndrome |
|
Telecanthus, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, ... |
OMIM:113620 |
| Roberts Syndrome |
|
High palate, Cleft palate, Cleft upper lip |
ORPHA:3103 |
| Restrictive Dermopathy |
|
Natal tooth, Telecanthus, Entropion, Sparse eyebrow, Submucous cleft hard palate, Sparse or absen... |
ORPHA:1662 |
| Viss Syndrome |
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Chronic gastritis, Ectropion, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cl... |
OMIM:619472 |
| Campomelic Dysplasia |
|
Irregular dentition, Epicanthus, Carious teeth, Submucous cleft hard palate, Cleft palate, High p... |
OMIM:114290 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Broad lateral eyebrow, Epicanthus, Sparse eyebrow, Cleft palate, Downturned corners of mouth, Thi... |
ORPHA:500150 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth, Conductive hearing imp... |
ORPHA:2152 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Unsteady gait, Nail dysplasia, Spars... |
OMIM:616682 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py... |
OMIM:309800 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Cyclopia,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
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Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Cyclopia,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Cyclopia,... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Cyclopia,... |
ORPHA:220386 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... |
ORPHA:261537 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Dental maloccl... |
OMIM:305600 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Submucous cleft hard palate, Loss of eyelashes, Cleft palate, Thick vermilion border, Thin eyebro... |
ORPHA:2636 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
| Adams-Oliver Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:100300 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal ... |
ORPHA:93271 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... |
ORPHA:261552 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Entropion, Abnormality of the dentition, Lagophthalmos, Sy... |
ORPHA:3455 |
| Hydrolethalus Syndrome 1 |
|
Cleft palate, Stillbirth, Median cleft lip |
OMIM:236680 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Epicanthus, Intestinal malrotation, Submucous cleft lip, Dental... |
OMIM:312870 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
| Craniofacial Microsomia 1 |
|
Cleft upper lip, Blepharophimosis, Limbal dermoid, Upper eyelid coloboma, Cleft palate, Wide mout... |
OMIM:164210 |
| Congenital Ptosis |
|
Congenital Horner syndrome, Congenital facial diplegia, Piebaldism, Long eyelashes, Cafe-au-lait ... |
ORPHA:91411 |
| Roberts-Sc Phocomelia Syndrome |
|
Cleft upper lip, Cleft palate, Coloboma, Eyelid coloboma, High palate, Shallow orbits, Downslante... |
OMIM:268300 |
| Lowe Oculocerebrorenal Syndrome |
|
Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
