Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Micrognathia, Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle ... |
OMIM:618266 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dil... |
OMIM:614219 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Macrocephaly, Polymicr... |
OMIM:600348 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Micrognathia, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, V... |
OMIM:616570 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Diffuse cerebral atrophy |
ORPHA:363654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Optic at... |
OMIM:613154 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex, Colpocephaly, Li... |
ORPHA:2185 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep... |
OMIM:618890 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... |
ORPHA:1528 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Abnormal optic disc morpholo... |
ORPHA:397715 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... |
ORPHA:77299 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia |
ORPHA:101071 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebra... |
OMIM:617668 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, ... |
OMIM:615574 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric... |
OMIM:617296 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,... |
ORPHA:370959 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Pachygyri... |
OMIM:304050 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis ... |
OMIM:164180 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria, Short palm |
OMIM:300982 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ataxia, Ventriculomegaly, Hyperplasia of the maxilla |
OMIM:618383 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... |
OMIM:607596 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g... |
ORPHA:300570 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial agenesis of the co... |
OMIM:616171 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Coloboma, Microp... |
ORPHA:324416 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Micrognathia, Simplified gyral pattern, Lateral ventricle dilatatio... |
ORPHA:284417 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Hydrocephalus, Anencephaly, Mic... |
ORPHA:2189 |
Cach Syndrome |
|
Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Optic atrophy, Cerebral atrophy,... |
ORPHA:135 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Microcephaly, Retrognathia, Cerebral atrophy, Lateral ventricle dilatation... |
ORPHA:464738 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Periventricular leukomalacia, Microcephaly,... |
ORPHA:500055 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormal h... |
ORPHA:314621 |
Alexander Disease Type I |
|
Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal cerebra... |
ORPHA:363717 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Umbilical herni... |
OMIM:618914 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Hemiatrophy, Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk... |
OMIM:615889 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce... |
OMIM:613153 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Retrognathia, Lateral v... |
ORPHA:544488 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, C... |
OMIM:619072 |
Walker-Warburg Syndrome |
|
Dandy-Walker malformation, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Mi... |
ORPHA:899 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Micrognathia, Perisylvian polymicrogyria, Lateral ventricle dilatat... |
OMIM:618291 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Microcephaly, Colo... |
OMIM:147250 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... |
OMIM:619517 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Micrognathia, Neonatal death, Microphthalmia, Retrognathia |
OMIM:615524 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainst... |
ORPHA:420179 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Micrognathia, Optic atrophy, Lateral ventricle dilatation... |
ORPHA:3078 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left... |
OMIM:617542 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Perisylvian p... |
OMIM:600118 |
Lissencephaly 8 |
|
Occipital encephalocele, Type II lissencephaly, Microcephaly, Optic atrophy, Hypoplasia of the br... |
OMIM:617255 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Dysgyria, Macrocephaly, Abnor... |
ORPHA:467166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Type II lissencephaly |
OMIM:614830 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Periventricular leukomalacia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atr... |
ORPHA:79243 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... |
OMIM:221770 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of cor... |
ORPHA:77298 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia |
OMIM:619501 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Micrognathia, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral ventric... |
OMIM:600721 |
Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, H... |
ORPHA:59315 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Craniosynostosis 6 |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:616602 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Hydrocephalus, Hypoplasia of the brains... |
OMIM:613155 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary... |
ORPHA:54595 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Micromelia, Microcephaly, Micrognathia, Hydrocephalus,... |
OMIM:241800 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly |
OMIM:619725 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... |
OMIM:617751 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Coloboma, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenes... |
OMIM:614583 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Thin corpus callosum, Shortening of all distal phalanges of the fin... |
OMIM:615716 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microphthalmia, Th... |
OMIM:614105 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypoplasia ... |
OMIM:610829 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperintensity of cerebral white m... |
ORPHA:2822 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Glutamine Deficiency, Congenital |
|
Micromelia, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
OMIM:610015 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Global brain atrophy |
ORPHA:324422 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Facial palsy, Macrocephaly |
OMIM:256850 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Microphthalmia |
OMIM:613885 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Malar flattening, Lateral ventricle dilatation |
OMIM:301025 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
Dystonia 30 |
|
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... |
OMIM:619291 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus, Failure to thrive |
OMIM:129850 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome... |
OMIM:614120 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, Enamel hypoplasia, Retr... |
ORPHA:557003 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
Trisomy 1Q |
|
Microretrognathia, Anophthalmia, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Agenesis of ... |
ORPHA:261344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Agyria, Remnants of the hyaloid vascular system, Optic nerve hyp... |
OMIM:614643 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight, Microdontia, Serrated i... |
OMIM:272440 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Microcephaly, Corpus callosum atrophy, Decreased nerve conduction velocity, De... |
ORPHA:565624 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callosum, Diffuse white matt... |
ORPHA:208447 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Macrocephaly |
OMIM:619575 |
Cofs Syndrome |
|
Death in infancy, Cerebral calcification, Microcephaly, Micrognathia, Optic atrophy, Aplasia/Hypo... |
ORPHA:1466 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Forearm undergrowth, Ve... |
OMIM:602200 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... |
OMIM:618606 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Small for gestational age |
OMIM:618302 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb |
OMIM:618646 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly |
OMIM:303350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Ataxia, Diastema, Gingival overgrowth, Downturned corners of mouth, Mac... |
OMIM:618729 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria |
OMIM:614870 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcephaly, Chorioretinal coloboma, Microphthalmia, Inferior cerebellar vermis hy... |
ORPHA:139471 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume, Hypoplasia of the br... |
OMIM:613668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Abnormally large globe, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Progr... |
OMIM:615249 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Coloboma |
ORPHA:141333 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil... |
OMIM:610828 |
Gombo Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:233270 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Gait disturbance |
ORPHA:26 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... |
ORPHA:397725 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microce... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Secondary microcephaly, Cerebellar hypoplasia, Neonatal deat... |
OMIM:613730 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum, Macrocephaly |
OMIM:618929 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Colpocephaly, Hyp... |
OMIM:616034 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpu... |
ORPHA:2570 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Lateral v... |
OMIM:608629 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... |
ORPHA:1193 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy |
OMIM:619057 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Hydrocephalus, Decreased body weight |
OMIM:614886 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth |
ORPHA:2412 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Megalencephaly, Hydrocephalus, Progressive macrocephaly, Microphthalmia, Cavum septum pellucidum,... |
OMIM:602501 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Microcephaly, Partial agenesis of the corpus callosu... |
ORPHA:434179 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Short 4th metacar... |
ORPHA:264200 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Ventriculomegaly |
ORPHA:858 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum |
OMIM:617854 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macro... |
OMIM:615502 |
Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum, Gait disturbance |
ORPHA:85335 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Micrognathia, Malar prominence, Microphthalmia, Cerebral cortical atrophy, Abno... |
ORPHA:48431 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop... |
OMIM:613724 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus,... |
OMIM:605627 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... |
OMIM:618193 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Neonatal death, Micro... |
ORPHA:85284 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... |
ORPHA:356961 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encep... |
OMIM:136760 |
Skraban-Deardorff Syndrome |
|
Broad-based gait, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Thick uppe... |
OMIM:617616 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Thin upper lip vermilion, Truncal ataxia, Hyperplasia of the maxilla |
OMIM:618587 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Optic nerve hy... |
ORPHA:171680 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Death in childhood, Primary microce... |
OMIM:619847 |
Temtamy Syndrome |
|
Micrognathia, Thick corpus callosum, Hypoplasia of teeth, Short 2nd toe, Chorioretinal coloboma, ... |
OMIM:218340 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:488635 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hydrocephalus |
OMIM:300884 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymi... |
OMIM:617397 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Micrognathia, High, narrow palate, Broad philtrum, Short philtrum, To... |
ORPHA:166108 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, D... |
OMIM:609757 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Cyclopia, Microcephaly, Hydrocephalus, Optic atrophy, Spinal dysraph... |
ORPHA:2162 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Hydrocephalus, Retrognathia, ... |
OMIM:620156 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Basal ganglia ca... |
OMIM:214150 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventriculomegaly, Microcephaly, Carious teeth, Small hand, Death in ad... |
OMIM:619229 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Increased head circ... |
OMIM:612301 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Retrognathia, Microcephaly |
ORPHA:2528 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Distal Deletion 10Q |
|
Microcephaly, Micrognathia, Short metatarsal, Facial diplegia, Lateral ventricle dilatation, Cere... |
ORPHA:96148 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephal... |
ORPHA:3412 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Retrognathia, Lateral ventricle dilatation, Abnormal caudate nucleus morphol... |
ORPHA:293725 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,... |
ORPHA:2148 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Downturned corners of mouth, Wide mouth, Everted lowe... |
OMIM:618067 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of pr... |
OMIM:300952 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microphthalmia |
OMIM:610125 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere... |
ORPHA:1947 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Abnormal cerebral white matter morphology, Dilated third ventricle, Optic atrophy, Cerebral atrophy |
ORPHA:314404 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hydrocephalus, Short foot, Cerebellar hypoplasia, Sho... |
ORPHA:163966 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus... |
ORPHA:141099 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... |
OMIM:620075 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Basal ganglia calcification, Cerebral calcification, Thalamic calcification |
OMIM:615483 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Iris coloboma, Spina bifida |
ORPHA:1104 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Rhizomelia, Microcephaly, Micrognathia, Small hand, Cerebral atroph... |
OMIM:611209 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Micrognathia, Congenital pseudoarthrosis of... |
ORPHA:435638 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... |
OMIM:614424 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia, Microcephaly |
ORPHA:3434 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618824 |
Mosaic Trisomy 1 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypopla... |
ORPHA:1692 |
Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, H... |
OMIM:216550 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Short finger, Primary microcephaly, Microphthalmia, Malar ... |
ORPHA:487825 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Cog5-Cdg |
|
Cerebral white matter atrophy, Diffuse cerebral atrophy, Microcephaly, Lateral ventricle dilatati... |
ORPHA:263487 |
Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Weight loss, Gait disturbance, Abnormal posturing, Ventriculomegaly |
ORPHA:157941 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio... |
OMIM:609053 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of c... |
OMIM:300887 |
Diencephalic Syndrome |
|
Hydrocephalus, Everted lower lip vermilion, Cachexia, Decreased body weight |
ORPHA:1672 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
Trisomy 13 |
|
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Malar flattening, Ir... |
ORPHA:3378 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Microphthalmia, ... |
ORPHA:3301 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border, Ataxia |
ORPHA:1532 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Pac... |
OMIM:236670 |
Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral infarct |
ORPHA:254881 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Hydrocephalus, Small hand, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:612863 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Joubert Syndrome 15 |
|
Ataxia, Exencephaly |
OMIM:614464 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Long philtrum, Agenesis of corpus callosum, Broad ... |
OMIM:618577 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Microcephaly, Micrognathia, Hydrocephalus, Anencephaly, Optic atroph... |
ORPHA:564 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... |
OMIM:614833 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Agenesis ... |
OMIM:225790 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Micrognathia, Hydrocephalus, ... |
OMIM:243605 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Retinal coloboma |
OMIM:601794 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormality of the tongue, Weight loss, Tip-toe gait, Gait disturbance, Abnorm... |
ORPHA:216866 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight |
ORPHA:93950 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy |
ORPHA:1574 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Retinal colo... |
OMIM:619775 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Retrognathia, Lissencephaly, Chorioretinal coloboma, Microphthalmia, Pachygyria, Ag... |
OMIM:243310 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Micrognathia, Hydrocephalus, Short philtrum, Abnormal oral cavity morphology, Umbilical hernia, O... |
ORPHA:1516 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618317 |
Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Short mandibular ... |
OMIM:602535 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma, Ventriculomegaly |
ORPHA:1553 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Broad-based gait |
OMIM:619470 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Abnormal thalamus morphology, Micrognathia |
ORPHA:404440 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Retrognathia, Mala... |
OMIM:620157 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus... |
OMIM:619955 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Orofacial cleft, Cleft ... |
ORPHA:2166 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Hypoplasia of the calcaneus, Macrocephaly, Microphth... |
OMIM:300863 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Macro... |
ORPHA:1777 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Agenesis of corpus callosum, Ventricu... |
OMIM:109120 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Colpocephaly, Periventricular leukomala... |
OMIM:619833 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Microcephaly, Micrognathia, Lateral ventricle dilatation, Hypoplasia of the cor... |
OMIM:615485 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Subependymal cysts, Smooth philtrum, Widely-... |
OMIM:618737 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Facial palsy, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abn... |
ORPHA:68 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebral atrophy, Leukoencephalopathy, La... |
ORPHA:572798 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
Hartsfield Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2117 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Absent septum pellucidum, Lateral ventricle dilat... |
OMIM:277590 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Micrognathia, Optic a... |
ORPHA:99742 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Rhizomelia, Agenesis of corpus callosum, Micrognathia |
ORPHA:93267 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial abse... |
OMIM:613150 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Microcephaly, Aqueductal stenosis, Micrognathia, Short tibia, Absent thumb, Absent ra... |
OMIM:251230 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Optic atrophy, Diffuse leukoen... |
OMIM:619487 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Microcephaly, Lateral ... |
OMIM:619869 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Optic disc pallor, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasi... |
OMIM:251270 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventriculomegaly |
OMIM:304100 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Halperin-Birk Syndrome |
|
Micrognathia, Optic atrophy, Colpocephaly, Death in childhood, Umbilical hernia, Agenesis of corp... |
OMIM:618651 |
Temple Syndrome |
|
Small for gestational age, Micrognathia, Overweight, Hydrocephalus, Obesity, Cleft palate, Trunca... |
OMIM:616222 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... |
ORPHA:177907 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Malar flattening, Alobar holo... |
OMIM:157170 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Chiari Malformation Type Ii |
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Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ca... |
OMIM:207950 |
Dandy-Walker Malformation With Postaxial Polydactyly |
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Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Truncal ataxia, Dandy-Walker malforma... |
OMIM:220220 |
Alexander Disease |
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Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors |
ORPHA:397973 |
Split Lower Lip |
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Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Mandibular prognathia, Malar flattening, Narrow palate, Short upper lip, Short philtrum, Thick ve... |
ORPHA:364028 |
Frontorhiny |
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Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Aplas... |
ORPHA:391474 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
X-Linked Intellectual Disability, Porteous Type |
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Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight |
ORPHA:93945 |
Microphthalmia With Limb Anomalies |
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Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cleft upper l... |
ORPHA:1106 |
Microphthalmia, Syndromic 13 |
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Microphthalmia, Iris coloboma, Chorioretinal coloboma, Microcephaly |
OMIM:300915 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Micrognathia, Abnormally large globe, Microcephaly |
OMIM:614098 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Cyclopia, Abnormality of the diencephalon, Holoprosencephaly, Microcephaly |
ORPHA:2165 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary... |
ORPHA:90322 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Hydrocephalus, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Fa... |
ORPHA:1895 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperint... |
ORPHA:79264 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus call... |
OMIM:619479 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Ventriculomegaly, Long philtrum |
ORPHA:261295 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Increased CSF protein concentration, Hypoplasia of the maxilla, Inability to walk, High palate, A... |
OMIM:218000 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Macrocephaly, Cavum sept... |
ORPHA:457279 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci... |
ORPHA:485421 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Micrognathia, Hydrocephalus, Meningocele, Anencephaly, Non-... |
ORPHA:1908 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Absent septum pellucidum, Microcephaly, Micrognathia, Abnormal cerebral white m... |
OMIM:300868 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio... |
OMIM:620114 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Optic atrophy, Hypoplasi... |
OMIM:253800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... |
OMIM:619306 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Facial palsy, Microcephaly, Aqueductal stenosis, Optic a... |
ORPHA:138 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Optic atrophy, Hypoplasia of the corpus callosum, Cho... |
ORPHA:494344 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Abnormal palate morphology |
ORPHA:93262 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Ataxia |
OMIM:618174 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Short metatarsal, Foot oligodactyly, Chorioretinal coloboma, Spina bifida occulta, ... |
OMIM:305600 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Obesity, High palate, Ma... |
ORPHA:2180 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of teeth, Microp... |
OMIM:234050 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Gabriele-De Vries Syndrome |
|
Malar flattening, Lateral ventricle dilatation, Cortical dysplasia, Micrognathia |
OMIM:617557 |
Warburg Micro Syndrome 3 |
|
Microcephaly, Micrognathia, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus callo... |
OMIM:614222 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Hydranencephaly |
|
Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Cerebral cortical atrophy, Primary micr... |
ORPHA:2177 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ... |
OMIM:210710 |
Developmental And Epileptic Encephalopathy 1 |
|
Global brain atrophy, Microphthalmia, Ventriculomegaly, Microcephaly |
OMIM:308350 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Hypoplasia of... |
OMIM:615636 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Microcephaly, Micrognathia, Pachygyria, Agenesis of corp... |
ORPHA:452 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Short philtrum, Everted lower li... |
OMIM:601499 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Slender build |
OMIM:300676 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Hydrocephalus, Thick lower lip vermilion, Deep philtrum, Thin vermilion border, Ab... |
ORPHA:2701 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Inability to walk, Hydrocephalus, Gait ataxia, Open mouth, Agenesis o... |
OMIM:616362 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Spina bifida, Micrognathia, ... |
ORPHA:2839 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Shuffling gait |
OMIM:300266 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypop... |
OMIM:264480 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive, Micrognathia |
OMIM:614857 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Microcephaly, Holoprosencephaly, Microphthalmia |
ORPHA:1598 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Abnormality of pr... |
ORPHA:438216 |
Pierpont Syndrome |
|
Microcephaly, Short toe, Short foot, Short finger, Short palm, Microphthalmia, Malar flattening |
OMIM:602342 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hydrocephalus, Retrognathia, Ventriculomegaly |
ORPHA:163961 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Micrognathia, Small hand, Sh... |
OMIM:241410 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Tented upper lip vermilion, Ataxia, Micrognathia, Noncommunicating hyd... |
OMIM:619320 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Micrognathia, Microcephaly, Dental malocclusion, Abnormal thalamus morphology, Short distal phala... |
ORPHA:2959 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Hydrocephalus, Obesity, Thin vermilion border, Long philtrum, Umbilical hernia, Mal... |
ORPHA:171839 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Hand oligodactyly, Fibular hypoplasia, Foot oligodactyly, Microphthalmia, Retrognathia |
OMIM:206920 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema |
OMIM:302350 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Failure to thrive, Small for gestational age, Slender build |
OMIM:608154 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hydrocephalus, ... |
ORPHA:254516 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Micrognath... |
OMIM:301043 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes... |
OMIM:620352 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri... |
ORPHA:90321 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Absent thumb, Microcephaly |
OMIM:617244 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Micrognathia, Thin corpus callosum, Microcephaly |
OMIM:619694 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Coloboma |
ORPHA:1617 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Optic atrophy, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,... |
ORPHA:254930 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Hypoplasia of the maxilla, Inability to walk, Thin vermilion border, High palate, Difficu... |
ORPHA:481152 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Microphthalmia, Spina bifida occulta,... |
OMIM:169550 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Hydrocephalus, Cleft palate, Hypoplasia of the zygomatic bone,... |
ORPHA:1812 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Retrognathia, Alveolar ridge overgrowth, Cleft palate, Thin ver... |
OMIM:612938 |
Curry-Jones Syndrome |
|
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, Occipital meningocele, ... |
OMIM:601707 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus, Obesity |
ORPHA:2183 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Retrognathia, Gingival overgrowth, Narrow palate, Conical incisor, Oli... |
OMIM:235510 |
New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... |
ORPHA:363558 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease... |
ORPHA:168577 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Inability to walk, Micrognathia |
OMIM:166300 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Op... |
OMIM:608091 |
Schisis Association |
|
Encephalocele, Small for gestational age, Spina bifida, Anencephaly, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Optic disc pallor, Optic disc drusen |
OMIM:611040 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal dental enamel morphology, Microcephaly, Microgna... |
ORPHA:2556 |
Craniofacial Dyssynostosis With Short Stature |
|
Malar flattening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Obesity |
OMIM:616521 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus, Gait disturbance, High, narrow palate |
ORPHA:2181 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cleft upper lip, Partial agenesis of the corpus callosum, Cleft pal... |
ORPHA:50 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Primary microcephaly, Microphthalmia, Retrognathia, Ventriculo... |
OMIM:618804 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Hypoplasia of the iris, Cerebellar hypopla... |
OMIM:613001 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Thick vermilion border, Everted lower lip vermilion, Difficulty walking, Retrognat... |
OMIM:300280 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum p... |
OMIM:616449 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... |
OMIM:252100 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Iris coloboma, Coloboma |
OMIM:610023 |
Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusi... |
ORPHA:1327 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
Fibular Hemimelia |
|
Anophthalmia, Short femur, Spina bifida, Short toe, Fibular hypoplasia, Proximal femoral focal de... |
ORPHA:93323 |
Jacobsen Syndrome |
|
Microcephaly, Micrognathia, Missing ribs, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holop... |
OMIM:147791 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Micrognathia, Hydrocephalus, Thin vermilion border, Hi... |
ORPHA:238769 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Microcephaly, Lateral ventricle dilatation, Short umbilical cord, Hyp... |
OMIM:618367 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Pettigrew Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Gait ataxia, Wide mo... |
OMIM:304340 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Loss of ambulation, Macrodontia of permanent maxillary central incisor, Retrognathia, Scissor gait |
ORPHA:466722 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Chorioretinal coloboma, Short palm, Microphthalmia, Agenesis of corp... |
ORPHA:268249 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation |
OMIM:603194 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema |
ORPHA:88619 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Micrognathia, Colpocephaly, Biparietal narrowing, Hypoplasia of the corpu... |
ORPHA:261250 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Optic nerve hypoplasia,... |
ORPHA:508498 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Microphthalmia, Microcephaly |
OMIM:601349 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa... |
OMIM:265050 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence |
ORPHA:99947 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Narrow palate |
ORPHA:207 |
Marden-Walker Syndrome |
|
Microcephaly, Micrognathia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, I... |
OMIM:248700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Type II lissencephaly, Microcephaly, Micrognathia, Hydrocephalus, Optic atrophy, Aplasia/Hypoplas... |
OMIM:253280 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Pa... |
ORPHA:79139 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Ob... |
OMIM:105830 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Failure to thrive, High palate, Gingival overgrowth |
OMIM:269920 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular wh... |
ORPHA:468631 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Triploidy |
|
Micrognathia, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mouth, Macrog... |
ORPHA:3376 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia |
OMIM:610706 |
Lujan-Fryns Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... |
ORPHA:776 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Microcephaly, Micrognathia, Short thumb, Anencephaly, A... |
OMIM:619148 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Ap... |
OMIM:607932 |
Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Decreased response to growth hormone stimulation test, Carious teeth, Small hand, P... |
OMIM:615873 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Neuroferritinopathy |
|
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... |
ORPHA:157846 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Death in childhood, Microphthalmia, Micrognathia, Microcephaly |
OMIM:610756 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hydrocephalus, Death in infancy |
OMIM:602361 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Cerebral calcification, Decreas... |
ORPHA:1855 |
Seckel Syndrome 2 |
|
Microphthalmia, Micrognathia, Cerebellar hypoplasia, Microcephaly |
OMIM:606744 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Dental crowding, Micrognathia, Hydrocepha... |
ORPHA:96170 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Gait disturbance, Ventriculomegaly |
ORPHA:272 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Retrognathia, Microcephaly |
OMIM:619981 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Aplasia... |
OMIM:219000 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal oral mucosa morphology, Abnormality of the philtrum, Hypoplasia o... |
ORPHA:2673 |
Fg Syndrome Type 1 |
|
Broad-based gait, Dental crowding, Malar flattening, Micrognathia, Hydrocephalus, Wide mouth, Fus... |
ORPHA:93932 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Small for gestational age, Micrognathia, High palate, Failure to thrive, Hyperplasia of the maxilla |
OMIM:620194 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion |
OMIM:300558 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Cerebellar h... |
OMIM:300896 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Hypoplasia of the corpus call... |
OMIM:615665 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption... |
ORPHA:763 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Meningocele, Choroid plexus cyst,... |
ORPHA:1827 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Aplastic clavicle, Short thum... |
ORPHA:2538 |
Tay-Sachs Disease |
|
Ventriculomegaly, Hypointensity of cerebral white matter on MRI, Progressive macrocephaly, Abnorm... |
ORPHA:845 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris co... |
ORPHA:2328 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Death in infancy, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Mi... |
OMIM:619135 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Non-midline cleft lip, Anencephaly, Spina bifida |
ORPHA:2476 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Microcephaly, Optic atrophy, Simplified gyral pattern, Microphthalmia |
OMIM:152950 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Short sternum, Hyp... |
OMIM:620113 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Extra-axial cerebrospinal flu... |
OMIM:614261 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Narrow mouth |
ORPHA:1529 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Narrow mouth |
ORPHA:83473 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, Progressive macrocephaly, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Emanuel Syndrome |
|
Broad jaw, Ventriculomegaly, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hy... |
OMIM:609029 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia, Ventriculomegaly |
OMIM:612530 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... |
ORPHA:444072 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Hydrocephalus, Mandibular osteomyelitis, Abnormality of the dentition |
ORPHA:53 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Optic atrophy, Aplasia/Hypoplasia of th... |
ORPHA:2510 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:614082 |
Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Facial palsy, Decreased response to growth hormone stimulat... |
OMIM:214800 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... |
ORPHA:2751 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem... |
OMIM:300534 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Disproportionate shortening of the tibia, Lateral ventricle dilatat... |
OMIM:263520 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Long philtrum |
OMIM:211960 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Long philtrum |
ORPHA:90653 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Cleft palate, Orofacial cleft, Gait disturbance, Agenesis o... |
ORPHA:220497 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Micrognathia, Hydrocephalus, Microdontia, Dentinogenesis imperfecta |
OMIM:112240 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal palate morphology |
ORPHA:251046 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... |
OMIM:259710 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, Cleft palate,... |
OMIM:220210 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Spina... |
OMIM:180849 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Tented upper lip vermilion, Ataxia, Hydrocephalus, Craniofacial osteosclerosis,... |
OMIM:618476 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Periventricular leukomalacia, Optic nerve hypoplasia, Absent thumb, Hypopl... |
ORPHA:500150 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of the maxilla |
ORPHA:313892 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Coloboma, Macrocephaly, Microphthalmia |
OMIM:615877 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
OMIM:243440 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, High palate, Long philtrum, Malar flattening, Failure to thrive, Agenesis of corpu... |
OMIM:612940 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly |
ORPHA:3469 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Widely spaced teeth, Agenesis of corpus callosum, Dand... |
ORPHA:459061 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618619 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
Microphthalmia, Syndromic 9 |
|
Neonatal death, Anophthalmia, Bilateral microphthalmos, Micrognathia |
OMIM:601186 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate |
OMIM:101600 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Micrognathia, Coloboma, Macrocephaly, Microphthalmia, Cavum septum pellucidum |
OMIM:617306 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Narro... |
ORPHA:87 |
Gorlin Syndrome |
|
Mandibular prognathia, Hydrocephalus, Carious teeth |
ORPHA:377 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Small for gestational age, Gait disturbance |
OMIM:613330 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration |
OMIM:245200 |
Tenorio Syndrome |
|
Mandibular prognathia, Hydrocephalus, Wide mouth, Macroglossia, Gait disturbance, Recurrent aphth... |
OMIM:616260 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Optic disc pallor, Microcephaly, Hydrocephalus, Polymicrogyria, Optic atrophy, ... |
OMIM:607872 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance |
ORPHA:275543 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon, Micrognathia |
ORPHA:1438 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Optic atrophy, Coloboma, Microphthalmia, Polymicrogyria |
OMIM:612379 |
Fryns Syndrome |
|
Aganglionic megacolon, Micrognathia, Microphthalmia, Dandy-Walker malformation, Agenesis of corpu... |
ORPHA:2059 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Short foot, Microphthalmia, Agenesis of corpus callosum, Iris coloboma |
ORPHA:250989 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, High palate, Spina bifida occulta |
ORPHA:2437 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelome... |
OMIM:311200 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:861 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ... |
OMIM:617260 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate |
OMIM:123500 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Relative macrocephaly, Microretrognathia, Natal tooth, Rhizomelia, Short tibia, Hy... |
OMIM:616300 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Abnormal posturing, Gait disturbance, Titubation |
ORPHA:225147 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Porencephalic cyst, Absent toe, Absent hand, Microphthalmia, Perive... |
ORPHA:974 |
Meningioma |
|
Enlarged pituitary gland, Papilledema, Hypothalamic hypothyroidism, Facial palsy, Reduced circula... |
ORPHA:2495 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micrognathia, Hydrocephalus, Mesomelia, Macrocephaly, Hydranenc... |
OMIM:260660 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Malar flattening, Cleft upper lip, Hydrocephalus, Hi... |
OMIM:612582 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Ventriculom... |
OMIM:616202 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Microphthalmia, Agenesis of ... |
OMIM:309801 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma... |
OMIM:101800 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Ti... |
ORPHA:293939 |
Diabetic Embryopathy |
|
Hydrocephalus, Micrognathia, Cleft palate, Spinal dysraphism |
ORPHA:1926 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Micrognathia, Hydrocephalus, Deep philtrum, Choreoathetosis, High palate, Tongue fascicul... |
OMIM:614969 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... |
ORPHA:439822 |
Moebius Syndrome |
|
Micrognathia, Facial diplegia, Hypoplasia of the brainstem, Lower limb undergrowth, Microphthalmi... |
OMIM:157900 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Micrognathia, Cleft upper lip, Cleft palate, High ... |
OMIM:242840 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Ataxia, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus callosum,... |
ORPHA:314679 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Open mouth, Gait ataxia |
OMIM:616355 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Hydrocephalus, Dental malocclusion, Dandy-Walker malformation |
OMIM:310400 |
Trisomy 17P |
|
Micrognathia, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia, High palate... |
ORPHA:261290 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Hydrocephalus, Cleft palate, Orofacial cleft, Gait disturbance, Agenesis o... |
ORPHA:220493 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Short metacarpal, Microcephaly, Micrognathia, Hypoplasia of the maxilla... |
OMIM:212720 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Retrognathia, Enamel hypoplasia, Failure to thrive, Ventriculomegaly |
OMIM:614576 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, P... |
OMIM:300166 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Hydrocephalus, Obesity, Malar ... |
OMIM:620155 |
Galloway-Mowat Syndrome 1 |
|
Dandy-Walker malformation, Microcephaly, Micrognathia, Optic atrophy, Cerebral atrophy, Hypoplasi... |
OMIM:251300 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Decreased nerve conduction velocity, Basal ganglia calcification, Optic atrophy, Mi... |
OMIM:610651 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Aniridia, Umbilical hernia |
ORPHA:1101 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Short distal phalanx of the thumb, Spina bifida, Hydrocephalus, Short ribs... |
OMIM:109400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Microphth... |
ORPHA:2250 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Short foot, Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Hyd... |
OMIM:239300 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Lateral ventricle dilatation, Iris coloboma |
OMIM:181270 |
2Q31.1 Microdeletion Syndrome |
|
Microcephaly, Micrognathia, Optic disc coloboma, Short foot, Coloboma, Short palm, Microphthalmia... |
ORPHA:251014 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic... |
OMIM:129400 |
Mosaic Trisomy 9 |
|
Spina bifida, Microcephaly, Micrognathia, Micromelia, Biparietal narrowing, Microphthalmia, Dandy... |
ORPHA:99776 |
Isolated Cleft Lip |
|
Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
B4Galt1-Cdg |
|
Thin upper lip vermilion, Small for gestational age, Hydrocephalus, Long philtrum, Dandy-Walker m... |
ORPHA:79332 |
Frontofacionasal Dysplasia |
|
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia, ... |
ORPHA:1791 |
Chromosome 13Q14 Deletion Syndrome |
|
Absent septum pellucidum, Micrognathia, Umbilical hernia, Holoprosencephaly, Hypoplasia of the co... |
OMIM:613884 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Cerebellar vermis hypoplasia, Short femur, Micrognathia, Porencephalic cyst, Hy... |
OMIM:277170 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Dandy-Walker malformation, Dental crowding, Micrognathi... |
ORPHA:314585 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... |
OMIM:170390 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Desmosterolosis |
|
Micrognathia, Hydrocephalus, Submucous cleft hard palate, Retrognathia, Cleft palate, Narrow mout... |
ORPHA:35107 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Obesity, Agenesis of perma... |
OMIM:201000 |
Desmosterolosis |
|
Micrognathia, Hydrocephalus, Partial agenesis of the corpus callosum, Alveolar ridge overgrowth, ... |
OMIM:602398 |
Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala... |
ORPHA:83597 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... |
OMIM:309520 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Abnormality o... |
ORPHA:91350 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cleft upper lip, Hypoplasia of the maxilla, Cleft... |
OMIM:305400 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Micrognathia, Micromelia, Choroid plexus cyst, Stillbirth, Lissencephaly, Cerebella... |
OMIM:256520 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Orofacial cleft, Spina... |
ORPHA:63259 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... |
ORPHA:1307 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Secondary microcephaly, Coloboma |
OMIM:618652 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Perisylvian polymicrogyria, Optic atrophy, Secondary m... |
OMIM:615663 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:2547 |
Tetrasomy 15Q26 |
|
Microretrognathia, Hydrocephalus, High palate, Dandy-Walker malformation |
OMIM:614846 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Optic disc pallor, Cerebellar vermis hypoplasia, Microcephaly, Colpocephal... |
OMIM:620083 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Microphthalmia, Coloboma |
OMIM:167730 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida, Microcephaly, Micrognathia, Supernumerary tooth, Optic disc coloboma, ... |
OMIM:234100 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Dysplastic corpus callosum, Hydrocephalus, Short ph... |
OMIM:617281 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mou... |
ORPHA:3219 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Micrognathia, Myelomeningocele, Hydrocephalus, Hypoplastic frontal sinuses, Pierre... |
ORPHA:90652 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hydrocephalus, Failure to thrive, Calvarial osteosclerosis |
OMIM:259700 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hydrocephalus, Umbilical hernia, Calcification of falx cerebri, Macroc... |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Obesity, Orofacial cleft, Ventriculomegaly |
OMIM:615630 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal auditory evoked potentials, Microcephaly, Decreased nerve conduct... |
OMIM:133540 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening |
ORPHA:79113 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Carious teeth, Downturned corners of mouth, Thin vermilion border, High palate, ... |
OMIM:617602 |
Trisomy 18 |
|
Microretrognathia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus call... |
ORPHA:3380 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Micrognathia, Holoprosencephaly, Microphthalmia, Retr... |
OMIM:619879 |
Muenke Syndrome |
|
Malar flattening, Hydrocephalus, High, narrow palate |
ORPHA:53271 |
Choreoacanthocytosis |
|
Caudate atrophy, Temporomandibular joint crepitus, Abnormal putamen morphology, Decreased amplitu... |
ORPHA:2388 |
Kabuki Syndrome 1 |
|
Micrognathia, Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Short 5th finger |
OMIM:147920 |
Pallister-Hall Syndrome |
|
Natal tooth, Decreased response to growth hormone stimulation test, Short 4th metacarpal, Holopro... |
OMIM:146510 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypopl... |
ORPHA:193 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypopla... |
ORPHA:3044 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Microcephaly, Micrognathia, Holoprosencephaly, Hypoplasia of the... |
ORPHA:1587 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Monosomy 18Q |
|
Mandibular prognathia, Hydrocephalus, Downturned corners of mouth, Wide mouth, Choreoathetosis, H... |
ORPHA:1600 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing |
OMIM:128100 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Ataxia, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate, Tooth agenesis |
ORPHA:2003 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Microphthalmia, Supernumerary tooth, Short metacarpal |
ORPHA:627 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Microcephaly, Micrognathia, Bilateral microphthalmos, Simplified gyral pattern, Cerebellar hypopl... |
OMIM:610758 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Deep philtrum, Micrognathia |
ORPHA:1237 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Hypodontia, Cleft upper lip, Conical tooth |
OMIM:119580 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Buphthalmos, Colpocephaly, Ventriculome... |
OMIM:618460 |
Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
Galloway-Mowat Syndrome 3 |
|
Microcephaly, Micrognathia, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Hypoplasia... |
OMIM:617729 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... |
ORPHA:245 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Microdontia, Protruding tongue, Hydrocephalus, ... |
OMIM:259775 |
Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... |
ORPHA:2612 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma |
OMIM:619908 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Elevated circulating growth hormone concentration, Abnormal zygomatic bone morphol... |
ORPHA:249 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:616920 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Hydrocephalus, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Malar flattening |
OMIM:224400 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate |
OMIM:607361 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:568 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Microcephaly, Micrognathia, Large... |
OMIM:249000 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Hydrocep... |
OMIM:300373 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Micrognathia, Hydrocephalus, Cleft palate, Long phil... |
OMIM:257300 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Micrognathia, Hydrocephalus, Hypoplasia of the corpus callos... |
ORPHA:401973 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Anophthalmia, Microcephaly, Myelomeningocele, Dental malocclusio... |
ORPHA:2052 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum |
ORPHA:228396 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Hypoplasia of the maxilla, Bilateral microphthalmos, Coloboma, Microphthalmia |
ORPHA:2399 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... |
ORPHA:91348 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Hydrocephalus, Meningocele, Cleft palate, High palate, Long philtr... |
OMIM:130720 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... |
ORPHA:560 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Failure to thrive |
OMIM:613804 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Exencephaly, Macrogyria, Lissencephaly, Po... |
ORPHA:2211 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Optic atrophy, Facial palsy, Macrocephaly |
OMIM:615085 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Dental crowding, Micrognathia, Normal pressure hydrocephalus, High palate, Neonata... |
OMIM:620351 |
Atelosteogenesis, Type Iii |
|
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microcephaly, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Aplasia... |
ORPHA:1052 |
Aase-Smith Syndrome I |
|
Open mouth, Hydrocephalus, Dandy-Walker malformation, Cleft palate |
OMIM:147800 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Malar flattening, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:164210 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M... |
OMIM:261540 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Missing ribs, Hypoplasia o... |
ORPHA:3186 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar ... |
OMIM:123790 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Upper limb under... |
OMIM:236680 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Microcephaly |
ORPHA:290 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Micrognathia, Biparietal narrowing, Microcephaly |
ORPHA:1915 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia |
ORPHA:782 |
Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Abnormal upper lip morphology, Malar flatte... |
ORPHA:2836 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Micrognathia, Absent radius, Hydrocephalus, Cerebellar hypoplas... |
OMIM:614083 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Thick upper lip vermilion, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydr... |
OMIM:612651 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Micrognathia, Optic nerve dysplasia, Optic atrophy, Macrogyria, Death in adoles... |
OMIM:614866 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... |
ORPHA:268810 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Cleft palate... |
OMIM:106260 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Dental malocclusion, Microcephaly |
OMIM:617883 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Irregularly spaced teeth, Recurrent sinusitis, Narrow maxilla |
OMIM:130000 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Aganglionic megacolon, Facial palsy... |
OMIM:607323 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Hydrocephalus, Orofacial cleft, Gait disturbance |
ORPHA:475 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Hydrocephalus, Non-midline cleft lip, Cleft palate, Downturned corners of mouth |
ORPHA:2075 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Wide mouth, Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Micrognathia, Dysplastic corpus callosum, Colpocephaly, Secondary micro... |
OMIM:618820 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:3191 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Small hand, Micrognathia |
OMIM:619339 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Facial palsy, Microcephaly, Micrognathia, Short thum... |
OMIM:113620 |
Warburg Micro Syndrome 2 |
|
Microcephaly, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphth... |
OMIM:614225 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Optic atrophy, Microcephaly |
ORPHA:2526 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Agenesis of cerebellar vermis, Cerebellar vermi... |
ORPHA:261537 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Retrog... |
ORPHA:2462 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Microcephaly, Absent radiu... |
ORPHA:1352 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, High palate, Micrognathia |
OMIM:614437 |
Trisomy 20P |
|
Spina bifida, Micrognathia, Abnormality of the dentition, Downturned corners of mouth, Abnormal p... |
ORPHA:261318 |
Tetrasomy 5P |
|
Micrognathia, Hydrocephalus, High palate, Long philtrum, Failure to thrive |
ORPHA:3309 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognathia, Optic atrophy, ... |
OMIM:616975 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Micrognathia, High, narrow palate, Meningocele, High ... |
ORPHA:2789 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
3C Syndrome |
|
Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Cleft palate, Orofacial cleft... |
ORPHA:7 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Decreased body weight, Retrognathia, Aplas... |
OMIM:616462 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hyd... |
OMIM:619895 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg... |
ORPHA:2050 |
Distal Triplication 15Q |
|
Micrognathia, Large for gestational age, Hydrocephalus, High palate, Retrognathia, Dandy-Walker m... |
ORPHA:314588 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
OMIM:611961 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus, Narrow palate, Cleft palate, Tooth agenesis, Hypoplasia of the zygomatic bone, Nar... |
ORPHA:1555 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Isolated Klippel-Feil Syndrome |
|
Cleft palate, Spina bifida |
ORPHA:2345 |
Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Absent thumb, Short thumb, Hydrocephalus, Absent radius, Aplasia of the 1st metacar... |
OMIM:227646 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Large basal ganglia, Agenesis of corpus call... |
ORPHA:261552 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth |
OMIM:620099 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Hemiatrophy of upper limb, Microphthalmia, Micrognathia |
ORPHA:163649 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Broad-based gait, Micrognathia, Abnormality of the gingiva, Absent c... |
ORPHA:513456 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology |
ORPHA:48818 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Ataxia |
ORPHA:381 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranence... |
ORPHA:1393 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition |
ORPHA:178303 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Narrow mouth |
ORPHA:1865 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Micrognathia, Hydrocephalus, Deep philtrum, Short philtrum |
OMIM:619951 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Hydrocephalus, High palate, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617822 |
Holoprosencephaly 1 |
|
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Ethmocep... |
OMIM:236100 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Micrognathia, Microcephaly |
ORPHA:2505 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Craniu... |
ORPHA:306542 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Malar flattening |
ORPHA:8 |
Icf Syndrome |
|
Communicating hydrocephalus, Protruding tongue, Micrognathia, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ap... |
ORPHA:3472 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Micrognathia, Cleft palate, High palate, Ventriculomegaly |
OMIM:616038 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Small for gestational age, Abnormality of the dentition, Cleft palate, ... |
ORPHA:363611 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Mandibular prognathia, Open bite |
ORPHA:2969 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Umbilical hernia, Oligodontia, Abnormality of the dentition |
ORPHA:2095 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Wide mouth, High palate, Ma... |
OMIM:618590 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Downturned corners of mouth, Micrognathia |
ORPHA:1064 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia |
ORPHA:137675 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph... |
OMIM:619534 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Hemiatrophy, Microphthalmia, Dandy-Walker malformation, Malar flattening, Ventriculom... |
OMIM:302960 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Exaggerated cupid's bow, Micrognathia, Aqueductal stenosis, Narrow mouth, ... |
OMIM:619512 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker mal... |
OMIM:217090 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Macrocephaly, Retrognathia, Microcephaly |
OMIM:620098 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Microphthalmia, Inferior cerebellar vermis hypoplasia, Retinal coloboma |
OMIM:618571 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Hydrocephalus, Hypoplasia of the zygomatic bone, Short ... |
OMIM:613603 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Hydrocephalus, Unsteady... |
ORPHA:96121 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Dental malocclusion, Optic atrophy, Microphthalmia, Enamel hypoplas... |
OMIM:618727 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorior... |
OMIM:612109 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Narrow palate, High ... |
OMIM:182212 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia... |
OMIM:618494 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Congenital Sialidosis Type 2 |
|
Ataxia, Protruding tongue, Hydrocephalus, Gingival overgrowth, Dysmetria, Umbilical hernia |
ORPHA:93400 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Abnormal optic disc morphology, Microcephaly |
ORPHA:891 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Microcephaly, Unilateral microphthalmos, Macrocephaly, Malar flattening, Enamel hypoplasia, Polym... |
OMIM:618874 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... |
OMIM:613451 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, Carious teeth,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, Carious teeth,... |
ORPHA:353277 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hydrocephalus, Thick lower lip vermilion, Macroglossia, Widely spaced ... |
OMIM:309900 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Carious teeth, Hypoplasia of mandible relative to maxilla,... |
ORPHA:33364 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Hydro... |
OMIM:616007 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Hydrocephalus, Submucous cleft hard palate... |
OMIM:115150 |
Alexander Disease |
|
Ataxia, Aqueductal stenosis, Hydrocephalus, High palate, Gait disturbance, Failure to thrive, Age... |
ORPHA:58 |
Kagami-Ogata Syndrome |
|
Hypoplasia of the maxilla, Long philtrum, Retrognathia, Micrognathia |
OMIM:608149 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Gingival overgrowth, Micrognathia |
ORPHA:1834 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:2169 |
6Q Terminal Deletion Syndrome |
|
Aplasia/Hypoplasia of the ribs, Micrognathia, Macrocephaly, Abnormal cerebral white matter morpho... |
ORPHA:75857 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... |
ORPHA:353281 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly |
ORPHA:1942 |
Joubert Syndrome 37 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum |
OMIM:619185 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cle... |
ORPHA:2671 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Malar flattening |
ORPHA:93259 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hydrocephalus, Dental malocclusion, Cleft palat... |
OMIM:101200 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Hydrocephalus, Gait disturbance, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Cleft upper lip, Hydrocephalus, Partial agenesis of the corpus cal... |
OMIM:305450 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Microcepha... |
OMIM:615948 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation |
ORPHA:1647 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Abnormality of the dentition, Malar prominence, Hypopituitarism, Hy... |
ORPHA:231226 |
Ciliary Dyskinesia, Primary, 43 |
|
Chronic sinusitis, Noncommunicating hydrocephalus |
OMIM:618699 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn... |
OMIM:616268 |
3Q29 Microduplication Syndrome |
|
Microcephaly, Biparietal narrowing, Macrocephaly, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Hydrocephalus, Anencephaly, Lobulated tongue,... |
OMIM:269860 |
Alobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Decreased response to growth hormone stimulation test, Inability to walk, Hydro... |
ORPHA:220386 |
Fryns Syndrome |
|
Microretrognathia, Aganglionic megacolon, Short thumb, Hypoplasia of the optic tract, Stillbirth,... |
OMIM:229850 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Focal Dermal Hypoplasia |
|
Abnormal dental enamel morphology, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Short ... |
ORPHA:2092 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615108 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, L... |
OMIM:213980 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Diffuse cerebral atrophy, Aganglionic megacolon, Micromelia,... |
OMIM:270400 |
Momo Syndrome |
|
Delayed eruption of teeth, Bilateral microphthalmos, Dental malocclusion, Taurodontia, Short ster... |
ORPHA:2563 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Micrognathia |
OMIM:614526 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, High palate, Retrognathia |
OMIM:616914 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:615546 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Fanconi Anemia |
|
Hypoplasia of the ulna, Aganglionic megacolon, Spina bifida, Microcephaly, Micrognathia, Hydrocep... |
ORPHA:84 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Ataxia |
ORPHA:2318 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Microphthalmia, Natal tooth |
OMIM:616395 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Ventriculomegaly, Micrognathia, Aqueductal stenosis, Hydrocephalus, ... |
OMIM:620305 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Microcephaly, Short thumb, H... |
OMIM:603467 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m... |
ORPHA:1299 |
Lathosterolosis |
|
Micrognathia, Meningocele, Gingival overgrowth, Downturned corners of mouth, High palate, Long ph... |
ORPHA:46059 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Retrognathia... |
OMIM:601812 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Microphthalmia, Short thumb, Iris coloboma |
ORPHA:2712 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Cortical dysplasia |
ORPHA:261272 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Periventricular leukomalacia, Microcephaly, Cortical dysplasia, Hypoplasia of the ... |
OMIM:100300 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:615109 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Micrognathia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia... |
ORPHA:2754 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology |
ORPHA:464321 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Hydrocephalus, Dental malocclusion, High palate, Narrow mou... |
OMIM:102500 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Non-midline cleft lip, Anencephaly, Cleft palate, Orofacial cleft |
ORPHA:1335 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Aganglionic megacolon, Short hallux... |
ORPHA:959 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Hypoplasia of teeth, Microcephaly |
ORPHA:2728 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microcephaly, Small hand, Aplasia/Hypoplasia of the corp... |
ORPHA:2714 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Cerebellar hypoplasia, Microphthalmia, Da... |
OMIM:606519 |
Marden-Walker Syndrome |
|
Micrognathia, Hydrocephalus, Submucous cleft hard palate, Retrognathia, Cleft palate, Narrow mout... |
ORPHA:2461 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Retrognathia, Death in infancy, Microcephaly |
OMIM:601675 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Dandy-Walker malformation |
ORPHA:2481 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thin upper lip vermilion, Anterior pituitary ... |
OMIM:619841 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Gait ataxia, High ... |
OMIM:617011 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Meningocele, Ventriculomegaly |
ORPHA:2031 |
Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth, Micrognathia |
OMIM:617667 |
Kapur-Toriello Syndrome |
|
Short thumb, Polymicrogyria, Retinal coloboma, Microphthalmia, Pachygyria, Iris coloboma |
OMIM:244300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Hydrocephalus, Sub... |
ORPHA:2658 |
Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Hydrocephalus, Gingival overgrowth, Stillbirth, Long philtrum, Ventriculomegaly |
OMIM:259720 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Tetraamelia, Micrognathia |
OMIM:273395 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Abnormality of the dentition, Malar prominence, Hypopituitarism, Hy... |
ORPHA:231214 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Gait disturban... |
ORPHA:2356 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, High palate, Median cleft palate, Micrognathia |
ORPHA:40366 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Hydrocephalus, Thick lower lip vermilion, Gingival overgrowth, Widely spaced teeth, Ev... |
ORPHA:579 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Hydrocephalus, Orofacial cleft, Gait disturbance |
ORPHA:1454 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Open bite, Hydrocephalus, Abnormality of the dentition, Abn... |
ORPHA:955 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra... |
OMIM:235730 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Short philtrum, Everted lower lip ... |
OMIM:613776 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Microphthalmia, Iris coloboma, Microcephaly |
ORPHA:1236 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Gait dis... |
OMIM:259600 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Obesity, Orofac... |
ORPHA:2322 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus |
OMIM:187600 |
Faciocardiomelic Syndrome |
|
Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Long philtrum, Hyperpla... |
OMIM:612731 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Ataxia |
ORPHA:97339 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis |
OMIM:231070 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Spina bifida, Microcephaly, Micrognathi... |
ORPHA:567 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Death in infancy, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia... |
OMIM:612289 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital... |
OMIM:616546 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, High palate, E... |
OMIM:608156 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Cleft palate, Long philtrum, Umbilical hernia, Spina bifida occulta |
ORPHA:2311 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Chronic sinusitis, Ventriculomegaly |
ORPHA:244 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Retrog... |
ORPHA:2554 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus |
OMIM:613686 |
Atelis Syndrome 2 |
|
Microphthalmia, Micrognathia, Remnants of the hyaloid vascular system, Microcephaly |
OMIM:620185 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Microcephaly |
OMIM:257910 |
Zttk Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dysplastic corpus callosum, Submucous cl... |
OMIM:617140 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth |
OMIM:158350 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
Monosomy 9P |
|
Malar flattening, Micrognathia, Microcephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:261112 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Malar flattening, Hydrocephalus, Long philtrum |
OMIM:207410 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth,... |
OMIM:613803 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Short palm, Branchial fistula, Decreased response to growth hormone stimulatio... |
OMIM:613406 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide mouth, Long philtrum |
ORPHA:251061 |
Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Ataxia |
ORPHA:65285 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Micrognathia, Microcephaly, Carious teeth, Hypoplasia of the corpus callosum, Short palm, Microph... |
OMIM:616734 |
Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Short humerus, Microcephaly, Micrognathia, Aplasia of the ulna, Hydroceph... |
OMIM:268300 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Optic atrophy, Microphthalmia, Malar flattening, Short d... |
OMIM:201180 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Myelomeningocele, Orofacial cleft, Smooth philtrum |
OMIM:193500 |
Whipple Disease |
|
Hydrocephalus, Ataxia, Cachexia |
ORPHA:3452 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Microcephaly, Supernumerary tooth, Small hand, Short foot, Cerebellar ... |
ORPHA:2108 |
Cockayne Syndrome A |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Dental malocclus... |
OMIM:216400 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Micrognathia, Narrow mouth, Hydrocephalus, Cleft palate, Long philtrum, Microd... |
OMIM:245600 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Large for gestational age, Gait ataxia, High ... |
ORPHA:457359 |
Mend Syndrome |
|
Microretrognathia, Dandy-Walker malformation, Micrognathia, Hydrocephalus, High palate, Failure t... |
OMIM:300960 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Iris coloboma, Macular coloboma |
OMIM:615145 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Chand Syndrome |
|
Ataxia, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of... |
ORPHA:1401 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal ethmoid bone morphology, Abnormal mandible condylar process morphology, Hyperplasia of t... |
ORPHA:2976 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... |
OMIM:166250 |
Acrofacial Dysostosis 1, Nager Type |
|
Micrognathia, Aqueductal stenosis, Trismus, Hydrocephalus, Cleft upper lip, Temporomandibular joi... |
OMIM:154400 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta... |
ORPHA:666 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate |
ORPHA:96129 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Hydrocephalus, Submucous cleft hard palate, Hypoplasia of the zygom... |
ORPHA:1340 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Short metacarpal, Hypoplasia of the corpus callosum, Micrognathia |
OMIM:614230 |
Fetal Akinesia Deformation Sequence 1 |
|
Small for gestational age, Micrognathia, High, narrow palate, Hydrocephalus, Cleft palate, Stillb... |
OMIM:208150 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Microcephaly, Carious teeth, Hypoplasia of the iris, Mic... |
OMIM:223370 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Th... |
OMIM:224690 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Carious teeth, Hydrocephalus, Cervical myelopathy, Macroglossia, Umbil... |
OMIM:253200 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep... |
OMIM:609049 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Cat Eye Syndrome |
|
Micrognathia, Absent radius, Umbilical hernia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:115470 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Absent hand, Umbilical hernia, Micr... |
ORPHA:464 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Microcephaly, Optic disc coloboma, Agenesis of maxillary lat... |
OMIM:309800 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus |
OMIM:314390 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Ventriculomegaly, Spina bifida |
ORPHA:1120 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Micrognathia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:284160 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormality of the dentition, Hydrocephalus, Submucous c... |
ORPHA:235 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia, Malar flattening, Iris coloboma, Hypoplasia of the fron... |
OMIM:229400 |
Achondroplasia |
|
Hydrocephalus, Obesity |
ORPHA:15 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Leukoencephalopathy, Hypop... |
OMIM:175780 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Cleft upper... |
ORPHA:828 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Colpocephaly, Hypoplasia of the corpus callosum, Macrocephaly, Cerebral white matter... |
ORPHA:477993 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Ataxia, Cachexia |
ORPHA:220295 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Pallister-Hall Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Microretrognathia, Natal tooth, Adrenocorticotropic ... |
ORPHA:672 |
Campomelic Dysplasia |
|
Irregular dentition, Spina bifida, Micrognathia, Carious teeth, Hydrocephalus, Submucous cleft ha... |
OMIM:114290 |
Hurler Syndrome |
|
Hydrocephalus, Gingival overgrowth, Macroglossia, Thick vermilion border, Microdontia, Umbilical ... |
OMIM:607014 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Ataxia, Abnormality of the dentition, Hydrocephalus, Macroglossia, Thi... |
ORPHA:581 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Chronic sinusitis, Absent frontal sinuses |
OMIM:244400 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Small for gestational age, Ataxia, Hypoplasia of... |
OMIM:139210 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Microcephaly, Optic atrophy, Microphthalmia |
OMIM:308300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Microcephaly, Optic atro... |
ORPHA:649 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the ulna, Short metacarpal, Micrognathia, Microcephaly, Aplasia/hypoplasia of the h... |
OMIM:609945 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Short thumb, Supernumerary tooth,... |
OMIM:268400 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Micrognathia |
OMIM:601374 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Carious teeth, Hydrocephalus, High palate, Long philtrum, Microdontia, Dentinogenes... |
ORPHA:536467 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High... |
OMIM:600920 |
Refsum Disease |
|
Microphthalmia, Short metacarpal |
ORPHA:773 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermil... |
OMIM:609460 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Athetosis, Subependymal nodules, Ventriculomegaly |
ORPHA:25 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum, Downturned corners of mouth, Narrow mouth |
ORPHA:1780 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short philtrum, High palate, Ataxia, Overweight, Obesity, Thick vermilion bo... |
OMIM:619475 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Cleft palate, Open bite |
ORPHA:794 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Micrognathia, Hydrocephalus, Macroglossia, High palate,... |
ORPHA:261337 |
Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti... |
ORPHA:1775 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Failure to thrive, Weight loss |
OMIM:619377 |
8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Branchial cyst, Ectopic posterior pituitary, Short femur, Optic nerve hypoplas... |
ORPHA:508488 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Hydrocephalus |
OMIM:616482 |
Oculodentodigital Dysplasia |
|
Microcephaly, Carious teeth, Basal ganglia calcification, Abnormal cerebral white matter morpholo... |
OMIM:164200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Spina bifida, Small for ges... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Spina bifida, Small for ges... |
ORPHA:363958 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Smooth philtrum |
ORPHA:585 |
Trisomy 8P |
|
Hydrocephalus, Cleft palate, Thin vermilion border, Retrognathia, Agenesis of corpus callosum, Bi... |
ORPHA:264450 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
ORPHA:2306 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Dandy-Walker malformation, Small for gestational age, Mic... |
OMIM:264090 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Achondroplasia |
|
Malar flattening, Hydrocephalus |
OMIM:100800 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine |
ORPHA:79345 |
Papillorenal Syndrome |
|
Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Gingival overgrowth, Macroglossia, Widely spaced teeth, Umbilical hernia |
OMIM:253220 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Large placenta, Stillbirth, Neonatal death, Retrognathia |
OMIM:215140 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Micrognathia, Short tibia, Fibular hypoplasia, Short ribs, Neonatal death, Microphth... |
OMIM:617925 |
Mirage Syndrome |
|
Hydrocephalus, Decreased body weight |
OMIM:617053 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Micrognathia, Cleft upper lip, Hydrocephalus, Cleft palate, Orofacial ... |
OMIM:194190 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cerebral white matter atrophy, Carious teeth, Basal ganglia calcification, Pro... |
ORPHA:90324 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Microcephaly, Micrognathia, Cerebral atrophy, Coloboma, Death in childhood... |
OMIM:309500 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrocephaly, Microcephaly |
ORPHA:65286 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hypoplastic cervical vertebrae |
ORPHA:35173 |
Marfan Syndrome |
|
Dental crowding, Cachexia, Micrognathia, Open bite, Abnormal zygomatic bone morphology, High, nar... |
ORPHA:558 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palat... |
ORPHA:2369 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Death in infancy, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:534 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Microcephaly, Hypoplasia of the radius, Mesomelic ... |
ORPHA:3103 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Optic atrophy, Buphthalmos |
OMIM:310600 |
Cockayne Syndrome |
|
Optic disc pallor, Cerebral calcification, Cerebral dysmyelination, Delayed eruption of primary t... |
ORPHA:191 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia |
ORPHA:335 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia |
OMIM:600901 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrocephalus, Stomatitis, Failure to thrive, Glossitis, Smooth philtrum |
ORPHA:79282 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Short thumb, Micrognathia |
OMIM:300895 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Large... |
ORPHA:96334 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Hypoplasia of th... |
OMIM:180500 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Failure to thrive, Smooth philtrum |
OMIM:277400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Facial palsy, Micrognathia, Carious teeth, Optic disc coloboma, Micr... |
OMIM:620186 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia of the zygomatic bone, M... |
ORPHA:920 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia |
OMIM:227650 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Basal ganglia calcification, Bilateral ... |
ORPHA:93325 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Narrow palate |
OMIM:277600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Open mouth |
ORPHA:457284 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Short metacarpal, Rhizomelia, Coloboma |
ORPHA:85167 |
Degcags Syndrome |
|
Microcephaly, Micrognathia, Short thumb, Hemihypotrophy of lower limb, Microphthalmia, Retrognath... |
OMIM:619488 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Narrow mouth, High palate, Dec... |
OMIM:617402 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Ataxia, Decreased response to growth hormone stimulation t... |
ORPHA:3455 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Narrow palate, High palate, Umbilical hernia, Tooth malposition |
OMIM:608328 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Microcephaly, Micrognathia, Patellar aplasia, Colpocephaly, Pachygyria... |
OMIM:606170 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus, High palate |
OMIM:104350 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th toe, Cleft mandible, Aplasia... |
OMIM:608670 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Hydrocephalus, Cleft palate, Oligodontia, Narrow mouth, Ventriculomegal... |
ORPHA:1272 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Meningocele, Cleft palate, Micrognathia |
ORPHA:2879 |
Bloom Syndrome |
|
Malar flattening, Small for gestational age, Agenesis of maxillary lateral incisor |
OMIM:210900 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Ataxia, Macroglossia, Abnormality of the sphe... |
ORPHA:309282 |
Fanconi Anemia, Complementation Group C |
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Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia |
OMIM:227645 |
Laurin-Sandrow Syndrome |
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Downturned corners of mouth, Hydrocephalus |
ORPHA:2378 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Inability to walk, Macroglossia, Hydrocephalus, Thick vermilion border |
ORPHA:505248 |
Tetrasomy 9P |
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Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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11 pairs of ribs, Micrognathia, Microcephaly, Small hand, Microphthalmia |
OMIM:620005 |
Bosma Arhinia Microphthalmia Syndrome |
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Paranasal sinus hypoplasia, Dental malocclusion, Hypoplasia of teeth, Coloboma, Microphthalmia |
OMIM:603457 |
Pseudoaminopterin Syndrome |
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Micrognathia, Hydrocephalus, Orofacial cleft, High palate, Short philtrum, Microdontia |
ORPHA:221120 |
Hurler Syndrome |
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Macroglossia, Hydrocephalus, Everted lower lip vermilion, Thick vermilion border |
ORPHA:93473 |
Hypoplasminogenemia |
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Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malformation |
ORPHA:722 |
Singleton-Merten Syndrome 1 |
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Waddling gait, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Short dental r... |
OMIM:182250 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia, Basal ganglia calcification, Papilledema, Macrocephaly |
OMIM:127000 |
Floating-Harbor Syndrome |
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Broad-based gait, Small for gestational age, Persistence of primary teeth, Hypoplasia of the maxi... |
ORPHA:2044 |
Bartsocas-Papas Syndrome 1 |
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Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of the maxilla, Short thumb, Abs... |
OMIM:263650 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia, Microcephaly |
OMIM:278730 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Sinusitis, Lower limb dysmetria, Micrognathia, Hydrocephalus, Abnormality of the sphenoid sinus, ... |
ORPHA:363700 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
H Syndrome |
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Hydrocephalus, Gingival overgrowth, Cleft upper lip |
ORPHA:168569 |
Loeys-Dietz Syndrome 1 |
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Micrognathia, Hydrocephalus, Cleft palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:609192 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Micrognathia |
OMIM:153400 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Dental malocclusion, Short finger, Microphthalmia, Retrognathia, Malar flattening |
OMIM:601552 |
Ectodermal Dysplasia-Blindness Syndrome |
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Microphthalmia |
ORPHA:1806 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Hydrocephalus, High palate |
OMIM:618162 |
Schinzel-Giedion Syndrome |
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Delayed eruption of teeth, Failure to thrive in infancy, Micrognathia, Abnormality of the gingiva... |
ORPHA:798 |
Nail-Patella Syndrome |
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Cleft palate, Spina bifida, Cleft upper lip |
OMIM:161200 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Unsteady gait |
ORPHA:637 |
Sturge-Weber Syndrome |
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Hydrocephalus, Gingival overgrowth |
ORPHA:3205 |
Baller-Gerold Syndrome |
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Micrognathia, Hydrocephalus, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Long... |
OMIM:218600 |
Peters Plus Syndrome |
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Thin upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Cleft upper lip, Hydrocephalus, ... |
ORPHA:709 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Microcephaly |
OMIM:272950 |
Costello Syndrome |
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Micrognathia, Hydrocephalus, Thick lower lip vermilion, Macroglossia, High palate, Failure to thr... |
OMIM:218040 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Exaggerated cupid's bow, Spina bifida, Partial agenesis of the corpus callosum, Thick vermilion b... |
OMIM:619480 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Jacobsen Syndrome |
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Ventriculomegaly, Spina bifida, Abnormal palate morphology, Long philtrum, Agenesis of corpus cal... |
ORPHA:2308 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating luteinizing hormone level, High, narrow palate, Hydrocephalus, Stillbirth, E... |
ORPHA:95699 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus, Ataxia |
OMIM:616084 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Microcephaly, Lens coloboma, Re... |
OMIM:619539 |
Autosomal Recessive Malignant Osteopetrosis |
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Delayed eruption of teeth, Hydrocephalus, Premature loss of primary teeth |
ORPHA:667 |
Williams Syndrome |
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Death in early adulthood, Abnormal dental enamel morphology, Microcephaly, Micrognathia, Carious ... |
ORPHA:904 |
Dextrocardia |
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Hydrocephalus |
ORPHA:1666 |
Unilateral Polymicrogyria |
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Abnormal posturing |
ORPHA:268943 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Focal cortical dysplasia, Delayed eruption of teeth, Agenesis of cerebella... |
ORPHA:2152 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Broad-based gait, Cachexia, Hydrocephalus, Limb ataxia, Ventriculomegaly |
ORPHA:2072 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Knobloch Syndrome |
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Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Thin upper lip vermilion, Hydrocephalus, Short philtrum, Cleft palate |
ORPHA:163979 |
Heterotaxy, Visceral, 1, X-Linked |
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Aqueductal stenosis, Myelomeningocele, Failure to thrive, Hydrocephalus |
OMIM:306955 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly |
OMIM:618188 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Stillbirth, Narrow mouth, Umbilical hern... |
OMIM:304120 |
Coccidioidomycosis |
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CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Cleft soft palate, Hydrocephalus, Downturned corners of mouth, Abdominal obesity, Smooth philtrum |
OMIM:619321 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Enamel hypoplasia, Periventricular cysts, Ventriculomegaly |
OMIM:309000 |
Thrombocytopenia-Absent Radius Syndrome |
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Malar flattening, Cleft palate, Spina bifida, Micrognathia |
OMIM:274000 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Primrose Syndrome |
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Ataxia, Hypoplasia of the maxilla, Thick lower lip vermilion, Downturned corners of mouth, Trunca... |
OMIM:259050 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Mandibular prognathia, Exaggerated median tongue furrow, Hydrocephalus, Submucous cleft lip, Dent... |
OMIM:312870 |
Trichorhinophalangeal Syndrome, Type Ii |
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Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, Prom... |
OMIM:150230 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Mandibular prognathia, Micrognathia, Microcephaly, Microphthalmia, Malar flattening, Short distal... |
OMIM:612474 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening |
OMIM:101400 |
Arima Syndrome |
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Wide mouth, Occipital meningocele, Dilated fourth ventricle, Ataxia |
OMIM:243910 |
Loeys-Dietz Syndrome 2 |
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Micrognathia, Hydrocephalus, Cleft palate, Umbilical hernia, Retrognathia, Malar flattening, Bifi... |
OMIM:610168 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Isolated Arrhinia |
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Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Macroglossia, Hydrocephalus |
OMIM:261740 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hydrocephalus, Gait disturbance, Abnormal palate morphology |
ORPHA:3042 |
Gaucher Disease |
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Hydrocephalus, Ataxia, Gingival bleeding, Ventriculomegaly |
ORPHA:355 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia... |
ORPHA:580 |
Townes-Brocks Syndrome |
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Aplasia/Hypoplasia of the 3rd toe, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus cal... |
ORPHA:857 |
Pagod Syndrome |
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Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Knobloch Syndrome 1 |
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Occipital encephalocele, Ataxia, Occipital meningocele, Spina bifida occulta, Ventriculomegaly |
OMIM:267750 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus |
ORPHA:137667 |
Cryptococcosis |
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Hydrocephalus |
ORPHA:1546 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi, Microcephaly |
OMIM:259770 |
Coffin-Siris Syndrome 12 |
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Micrognathia, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommunicating hydroce... |
OMIM:619325 |
Oeis Complex |
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Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Fraser Syndrome 2 |
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Microphthalmia |
OMIM:617666 |
Lymphangioleiomyomatosis |
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Hydrocephalus |
ORPHA:538 |
Neurofibromatosis Type 1 |
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Hydrocephalus, Ataxia |
ORPHA:636 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Treacher Collins Syndrome 1 |
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Malar flattening, Bilateral microphthalmos, Micrognathia |
OMIM:154500 |
Tuberous Sclerosis Complex |
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Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Vater/Vacterl Association |
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Occipital encephalocele, Failure to thrive, Spina bifida, Patent urachus |
OMIM:192350 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the maxilla, Waddling gait |
OMIM:300106 |
Townes-Brocks Syndrome 1 |
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Umbilical hernia, Hydrocephalus, Small for gestational age, Holoprosencephaly |
OMIM:107480 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele, High palate, Narrow palate |
OMIM:276820 |