Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column, Facial cleft |
OMIM:600776 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde... |
OMIM:618709 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis |
OMIM:213010 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Type II lissencephaly |
OMIM:615041 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia... |
OMIM:619072 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft, Holoprosencephaly, Scoliosis, Anterior encephalocele |
OMIM:601357 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Periv... |
OMIM:603671 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Dandy-Walker malformation |
ORPHA:217 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Mac... |
OMIM:615938 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Macrocephal... |
ORPHA:467166 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Orbital craniosynostosis |
ORPHA:1538 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,... |
OMIM:618577 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Mandibular prognathia, Hyperactivity, Impulsivity, Aggressive behavior, Micrognathia, Cryptorchid... |
OMIM:604317 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of the corpus callosum... |
ORPHA:300570 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
Congenital Hydrocephalus |
|
Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair... |
ORPHA:2185 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macroce... |
OMIM:600348 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Facial cleft, Spina bifida |
ORPHA:1104 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensi... |
ORPHA:363717 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells |
ORPHA:65684 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Abnormal eyelid morphology, Abnormality of the humerus, A... |
ORPHA:1794 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Pentasomy X |
|
Camptodactyly of finger, Microcephaly, Micrognathia, Patent ductus arteriosus, Small hand, Plagio... |
ORPHA:11 |
Cocaine Embryofetopathy |
|
Encephalocele |
ORPHA:1911 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Hydrocephalus, Optic atrophy, Simplified gy... |
OMIM:619470 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ... |
OMIM:616602 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia |
ORPHA:1528 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Abnor... |
ORPHA:59315 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal pla... |
ORPHA:435638 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... |
OMIM:615191 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... |
ORPHA:1756 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... |
OMIM:602849 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Frontal polymicrogyria, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Bro... |
OMIM:614563 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... |
OMIM:105550 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
6Q25 Microdeletion Syndrome |
|
Rocker bottom foot, Camptodactyly of finger, Microcephaly, Micrognathia, Plagiocephaly, Clinodact... |
ORPHA:251056 |
Unilateral Ocular Duplication |
|
Encephalocele, Abnormal pupil morphology, Midline facial cleft, Cleft palate, Microcornea, Iris c... |
ORPHA:3374 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Joubert Syndrome 9 |
|
Encephalocele, Scoliosis, Ventriculomegaly |
OMIM:612285 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Ventric... |
OMIM:607432 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... |
OMIM:618736 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb |
OMIM:618646 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the ... |
ORPHA:306542 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Lissencephaly 4 |
|
Wide nasal bridge, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus call... |
OMIM:614019 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... |
ORPHA:397725 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Dolichocepha... |
OMIM:615433 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
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 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida |
ORPHA:64754 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Fusion of the cerebellar hem... |
ORPHA:370959 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele |
OMIM:200130 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger |
OMIM:618725 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphology, Retrognath... |
ORPHA:314621 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Macrocephaly, Plagiocephaly, Genu v... |
ORPHA:3210 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Kyphosis, Subdural hemorrhage, Lateral ventricle dilatation, Scoliosis, Spina bifi... |
OMIM:618291 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, P... |
OMIM:617751 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
Fried Syndrome |
|
Aggressive behavior, Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance, High palat... |
ORPHA:85335 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume, Hypoplasia of the br... |
OMIM:613668 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypopla... |
ORPHA:1647 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Type II lissencephaly, Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia ... |
ORPHA:272 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Focal white matter lesions, ... |
ORPHA:557003 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal vertebral morphology, Ethmoidal encephal... |
ORPHA:280195 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder |
ORPHA:250994 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Occipital encephalocele, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:617255 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Joint hypermobility, High, narrow p... |
OMIM:607597 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Plagiocephaly, Hip dysplasia, H... |
OMIM:616362 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac... |
OMIM:161200 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Cerebellar hypoplasia |
OMIM:218670 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha... |
OMIM:175700 |
Leber Congenital Amaurosis |
|
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... |
ORPHA:1520 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Microcephaly, Patent ductus arteriosus, Plagiocephaly, Hypoplasia of the brainstem, Short 5th fin... |
ORPHA:500159 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Micromelia, Microcephaly, Micrognathia... |
OMIM:241800 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Basal ganglia calcification, Cerebellar calcifications, Cerebral calcification, Thalamic calcific... |
OMIM:615483 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Short neck, Hyperlordosis, Abnormal sacrum morphology, Wide nasal bridge, Verte... |
ORPHA:1797 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification |
OMIM:618824 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Molar tooth sign on MRI, Retinopathy |
OMIM:614464 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Anteverted nares, Hydrocephalus, Optic atrophy, Low-set ears, Self-mutilation |
OMIM:300884 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly, Hypoplasia of th... |
OMIM:618603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Type II lissencephaly, Hypoplasia of the pons, Pac... |
OMIM:613153 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Ataxia, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agenesi... |
OMIM:300067 |
Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Overlapping toe, Micrognathia, Hydrocephalus, Aplasia/Hyp... |
OMIM:617822 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... |
ORPHA:380 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele |
OMIM:615397 |
Developmental And Epileptic Encephalopathy 65 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Plagiocephaly, Ventriculomegaly |
OMIM:618008 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Small hand, Facial cleft, Hyp... |
ORPHA:1786 |
Lissencephaly 3 |
|
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... |
OMIM:611603 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Arachnodactyly, Postaxial polydactyly, Microcephaly, Doli... |
OMIM:619721 |
Parietal Foramina 1 |
|
Encephalocele |
OMIM:168500 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Anencephaly, Cerebellar hypopla... |
OMIM:614175 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Chiari type I malformation, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Anteverted nares, Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis, Polymicrogyria |
OMIM:300982 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion |
OMIM:618731 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... |
OMIM:618193 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Small hand, Brachycephaly, Thick corpus callosum, Prominen... |
OMIM:618672 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Depressed nasal bridge, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... |
OMIM:611134 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Spina bifida occulta |
OMIM:101805 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Midface retrusion, Cerebellar vermis hypoplasia, Toe synd... |
OMIM:619720 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Stroke, Arrhythmia, Spina bifida occulta... |
ORPHA:230839 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the c... |
ORPHA:2570 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Brachycephaly, 2-3 toe syndactyly, Postaxial foot polydactyl... |
ORPHA:404440 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Hypogonadism, Short nose, Spina bifida occulta |
ORPHA:2983 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly |
OMIM:614830 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Re... |
OMIM:614643 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Holoprosencephaly, Abnormal form of the vertebral bodies |
ORPHA:1590 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1 |
OMIM:102510 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Anteverted nares, Depressed nasal bridge, Short neck, Cr... |
ORPHA:2311 |
Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis |
OMIM:184400 |
Muenke Syndrome |
|
Short palm, Tarsal synostosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis... |
ORPHA:53271 |
Kniest Dysplasia |
|
Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora... |
ORPHA:485 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Wide nasal bridge, Colpocephaly, Low-set ears, Neonatal death, Pachygyria |
OMIM:614870 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Plagiocephaly, N... |
ORPHA:85284 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Patent ductus arteriosus |
OMIM:618330 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Spina bifida occulta, Tethered cord |
OMIM:615281 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Broad nasal tip, Cryptorchid... |
OMIM:609757 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Abnormal odontoid process morphology, Block verteb... |
OMIM:613686 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Flared nostrils, Dilated cardiomy... |
ORPHA:280679 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Chorioretinal dysplasia, Protruding ear, Abnormal optic nerve morphology, Re... |
ORPHA:899 |
Kleeblattschaedel |
|
Craniosynostosis, Hydrocephalus, Elbow ankylosis, Recurrent corneal erosions |
OMIM:148800 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Syringom... |
OMIM:207950 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Brushfield spots, Facial cleft, Cleft palate, Microcornea, Limbal dermoi... |
ORPHA:1791 |
Acrofacial Dysostosis, Weyers Type |
|
Postaxial hand polydactyly, Small hand, Facial cleft, Advanced eruption of teeth, Clinodactyly of... |
ORPHA:952 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck |
OMIM:613885 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... |
ORPHA:1908 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:1665 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Frontal bossing, Microretrognathia, Agenesis of cerebellar vermis, Post... |
OMIM:220220 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Atten... |
ORPHA:649929 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Cleft palate, Bicornuate uterus, Bifid uvula |
OMIM:258320 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Coxa valga, Micrognathia, Hydrocephalus, Plagiocephaly, Colpocephaly, Hammertoe, Hi... |
OMIM:619833 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Talipes equinovarus, Macrocephaly, Agenesis of corpus callosum, Vent... |
OMIM:303350 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Ventriculomegaly, Microcephaly, Hydrocephal... |
ORPHA:500055 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Microcephaly, Micrognathia, Cerebral atrophy, Plagiocephaly, Bilateral talipe... |
ORPHA:544469 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Cerebellar v... |
ORPHA:135 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Microcephaly, Plagiocephaly, Abnormal cerebral white matter morphology, Talip... |
OMIM:617481 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Mosaic Trisomy 9 |
|
Corneal opacity, Rocker bottom foot, Spina bifida, Micrognathia, Micromelia, Elbow dislocation, C... |
ORPHA:99776 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Brachy... |
ORPHA:1532 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Kyphoscoliosis |
OMIM:614815 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Optic nerve hypoplasia, Cra... |
ORPHA:93932 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Simplified gyral pattern, Ventriculomegaly |
OMIM:613402 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Isotretinoin Syndrome |
|
Sacral dimple, Spina bifida occulta, Depressed nasal bridge |
ORPHA:2305 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Rocker bottom foot, Micrognathia, Scaphocephaly, Hip dislocation, Elbow flexion ... |
ORPHA:1143 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Dolichocephaly, Micrognathia, Hydrocephalus, Patent ductus art... |
ORPHA:1516 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608627 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypo... |
OMIM:615181 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Foot polydactyly, Chorioret... |
ORPHA:268249 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Hydro... |
OMIM:300558 |
Malan Overgrowth Syndrome |
|
Frontal bossing, Scaphocephaly, Plagiocephaly, Slender long bone, Lateral ventricle dilatation, H... |
ORPHA:420179 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Single transverse palmar crease, Microcephaly, Micrognathia, Plagiocephaly, Cerebellar hypoplasia... |
OMIM:619188 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Scoliosis |
ORPHA:398156 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Dystonia 30 |
|
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... |
OMIM:619291 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Paroxysmal supraventricular tachycardia, Transposition of the great arteries, P... |
OMIM:617877 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Sen... |
OMIM:612938 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy |
OMIM:619057 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Hydroc... |
ORPHA:8 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Cryptorchidism, Orbital encephalocele, Cleft palate, Gray matter heterotopia, Age... |
OMIM:164180 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618317 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Three M Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short neck, Hyperlordosis, Increased vertebral height, ... |
OMIM:273750 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma |
OMIM:210350 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... |
OMIM:619302 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal... |
ORPHA:54595 |
Pseudoprogeria Syndrome |
|
Cranium bifidum occultum, Spinal arachnoid cyst |
ORPHA:2985 |
New-Onset Refractory Status Epilepticus |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar edema, CSF pleocytosis, Abnormal thalamic... |
ORPHA:363558 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ... |
OMIM:618914 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Apl... |
ORPHA:94066 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Microcephaly, Small hand, Plagiocephaly, Short foot, Macrocephaly, Cl... |
OMIM:618089 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Facial cleft |
OMIM:239800 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Ventriculomegaly, Global brain atrophy, Microcephaly |
OMIM:308350 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Hypoplasia of the pons, Plagiocephaly, Cerebellar hypoplasia, Macrocephaly |
OMIM:607313 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cer... |
ORPHA:1947 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anencephaly, Absent ... |
ORPHA:63259 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Microcephaly, Tapered finger, Brachycephaly, Plagiocephaly, Abnormal cerebral white ... |
ORPHA:261652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Hydrocephalus, Flexion contracture, Developmental cataract, Macroglossia, Hypo... |
OMIM:613155 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Leukoencephalopathy |
OMIM:613724 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibilit... |
ORPHA:85194 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Temple Syndrome |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Prec... |
OMIM:616222 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Posteriorly rotated ears, Thick nasal alae, Micrognathia, Hydrocephalus, Retrog... |
ORPHA:163961 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Pelvis-Shoulder Dysplasia |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris co... |
ORPHA:2839 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Hip contracture, Microcephaly, Tapered finger, Brachycephaly, Cerebral atrophy, ... |
OMIM:616801 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, C... |
OMIM:616034 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal... |
ORPHA:397715 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalu... |
ORPHA:171839 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia |
OMIM:600251 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Brachydactyly, Hip subluxation, Wide anterior fontanel, Squared iliac bones, Fe... |
OMIM:618853 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hypoplas... |
ORPHA:397973 |
Houge-Janssens Syndrome 3 |
|
Frontal bossing, Single transverse palmar crease, Microcephaly, Plagiocephaly, Hypoplasia of the ... |
OMIM:618354 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Frontal bossing, Tapered finger, Hypoplasia of the pons, Patent ductus arteriosus, Dental maloccl... |
OMIM:619293 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Ma... |
ORPHA:1914 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Hip subluxation, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callo... |
OMIM:620200 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Micrognathia, Retrognathia, Plagiocephaly, Clinodactyly, Periventricular leukoma... |
OMIM:617808 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Spina bifida occulta, Anteverted nares |
ORPHA:1185 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Diffuse cerebral atrophy, Turricephaly, Arachnodactyly, Broad hallux, Proximal pla... |
OMIM:613776 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares |
ORPHA:324422 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Cerebral atrophy, Plagio... |
OMIM:617296 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai... |
OMIM:615219 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Frontal bossing, Agenesis of corpus callosum, Macrocephaly |
OMIM:618929 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gait ataxia, Gait imbal... |
ORPHA:488635 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Hearing impairment |
ORPHA:1008 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Retinopathy, Gait disturbance |
ORPHA:26 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Spina bifida occulta |
OMIM:618060 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Abnormal cerebral white matter morphology, Short phalanx of finger, Talipes equino... |
OMIM:222748 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal si... |
OMIM:136760 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Joubert Syndrome 7 |
|
Encephalocele, Scoliosis |
OMIM:611560 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... |
OMIM:605282 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Midface retrusion, Microcephaly |
OMIM:617768 |
Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachycephaly, Narrow palm, Plagioc... |
OMIM:619435 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, High, narrow palate |
ORPHA:2183 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Microcephaly, Coxa valga, Brachycephaly, Plagiocephaly, Holopros... |
ORPHA:2163 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,... |
ORPHA:2635 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencepha... |
OMIM:610828 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Scoliosis |
ORPHA:177 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Hypoplasia of the brainstem, Bilateral talipes equinovarus, Pachygyria |
OMIM:618174 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604484 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Microcephaly, Megalencep... |
OMIM:613603 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cerebellar dysplasia, Spinal rigidity, Hydrocephalus, Partial absence of cerebella... |
OMIM:613150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Retrognathia, Colpocephaly, High palate,... |
OMIM:620156 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Facial cleft, Upslanted... |
ORPHA:66625 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration,... |
ORPHA:2211 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Scoliosis, Spina bifida occulta, Agenesi... |
OMIM:617360 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hyperactivity, Hypospadias, Abnormal pinna morphology, Depressed nasal bri... |
OMIM:300354 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Patent ductus arteriosus, Scaphocephaly, Dental malocclusion, Plagiocephaly, Cli... |
OMIM:619149 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Bifid nasal tip, Optic atr... |
OMIM:300983 |
Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Patent ductus arteriosus, Wide nasa... |
ORPHA:96148 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Spina bifida, Abnormal form of the verte... |
ORPHA:1327 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-li... |
OMIM:300845 |
Acrofacial Dysostosis, Palagonia Type |
|
Short neck, Bulbous nose, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:1787 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flat occiput, Cerebellar vermis hypoplasia, Overlapping fingers, Overlapping toe, Plagiocephaly, ... |
OMIM:619383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Hypoplasia of the brains... |
OMIM:236670 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Ankyloblepharon, Hypoplastic ... |
OMIM:263650 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Anteverted nares, Depressed nasal bridge, Inability to walk, Lobulated ... |
OMIM:613443 |
Alexander Disease |
|
Death in infancy, Ataxia, Hydrocephalus, Dysmetria, Death in adolescence, Death in childhood, Inc... |
OMIM:203450 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Desmosterolosis |
|
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... |
ORPHA:35107 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Cerebral calcification, Death in in... |
OMIM:259775 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... |
OMIM:304100 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus, Ataxia |
ORPHA:73256 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Arthrogryposis, Distal, Type 2A |
|
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Wide nasal bridge, Scolios... |
OMIM:193700 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Scoliosis |
OMIM:217100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Flexion contractu... |
OMIM:613154 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Rocker bottom foot, Microcephaly, Microgna... |
ORPHA:363528 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hydrocephalus, Patent ductus arteriosus, Brachycephaly, Chiari type I malformati... |
OMIM:218350 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
White Forelock With Malformations |
|
Spina bifida occulta |
ORPHA:2475 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Ataxia, Anteverted nares, Micrognathia, Cryptorchidism, Sen... |
OMIM:617201 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Bulbous nose, Optic atrophy, Protruding ear,... |
OMIM:614219 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Upper eyelid coloboma, Clinodactyl... |
OMIM:619736 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal form of the vertebral bodies... |
ORPHA:475 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Alazami-Yuan Syndrome |
|
Hyperactivity, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Cryptorchidism,... |
OMIM:617126 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Type II lissencephaly, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of the ... |
OMIM:615249 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Coxa valga, Micrognathia, Slender finger, Wide anterior fontanel, Abnormality of... |
ORPHA:163649 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueduct... |
OMIM:619512 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Frontal bossing, Hip contracture, Arachnodactyly, Microcephaly, Micrognathia, Small hand, Elbow f... |
ORPHA:371364 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Turricephaly, Broad hallux, Tapered finger, Micrognathia, Short thumb, Plagiocephaly, Chiari type... |
OMIM:620224 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Anal atresia, Genu valgum |
ORPHA:1381 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... |
ORPHA:56304 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Sandal gap, Tapered finger, Brachycephaly, Plagiocephaly, Macrocephaly, Clinodac... |
OMIM:618430 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal cerebrospinal fluid morpholo... |
ORPHA:68 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Cerebral infarct |
ORPHA:254881 |
Cebalid Syndrome |
|
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Polymicrogyria, Mid... |
OMIM:618774 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Micrognathia, Hypopl... |
OMIM:620157 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Abnormality of the hand, Brachycephaly, Plagiocephaly, Camptod... |
ORPHA:369891 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Facial cleft, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells |
OMIM:159950 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Micrognathia, Microcephaly |
ORPHA:77300 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge |
ORPHA:83473 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... |
OMIM:614424 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly, Sandal gap, Mandibular prognathia |
OMIM:615516 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Carious teeth, Lens colob... |
ORPHA:2791 |
Neuroferritinopathy |
|
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... |
ORPHA:157846 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema, Increased CSF protein ... |
ORPHA:88619 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Brushfield spots, Long fingers, Hydrocephalus, Joint stiffness, Abnormality of neur... |
ORPHA:1895 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
16P13.11 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Abnor... |
ORPHA:261236 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Telangiectasia of the skin, Long nose, Cryptorchidism, Abno... |
ORPHA:52 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Chiari ma... |
ORPHA:93262 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Wide an... |
OMIM:620099 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Spina bifida, Patent ductus arteriosus, Anomalous pulm... |
ORPHA:1120 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Micrognathia, Microcephaly, Dental malocclusion, Abnormal thalamus morphology, Short distal phala... |
ORPHA:2959 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Plagiocephaly, Slender long bone, Decreased calvarial ossificatio... |
OMIM:618265 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
Carpenter Syndrome 1 |
|
Sacral dimple, Depressed nasal bridge, Short neck, Cryptorchidism, Patent ductus arteriosus, Tetr... |
OMIM:201000 |
Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Frontal bossing, Syndactyly, Broad hallux, Single transverse palmar crease... |
OMIM:305450 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Delayed epiphyseal ossification, Cerebral atrophy, Cutaneous syndactyly, Genu va... |
ORPHA:166024 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft h... |
ORPHA:2189 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Wide nasal bridge, Wide nasal base, Polyphagia, Self-mutilation |
OMIM:616521 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Scoliosis, Abnormal vertebral morphology |
ORPHA:220493 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Ectopia lentis, Micrognath... |
OMIM:224400 |
Diencephalic Syndrome |
|
Macrotia, Hydrocephalus, Long penis, Optic atrophy |
ORPHA:1672 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of ... |
OMIM:613330 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus... |
ORPHA:2701 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Polymicrogyria, Ventriculom... |
OMIM:602501 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Arachnodactyly, Microcephaly, Elbow dislocat... |
OMIM:620083 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Back pain, Spinal cord compression, Abnormal cer... |
ORPHA:2356 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
Keipert Syndrome |
|
Broad hallux phalanx, Ptosis, Epicanthus, Short hallux, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:2662 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Lacrimal duct a... |
ORPHA:1529 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Acrocraniofacial Dysostosis |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies,... |
ORPHA:949 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Carious teeth, Mandibular osteomyelitis, Hydrocephalus, Gener... |
ORPHA:53 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Scoliosis |
ORPHA:2318 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Brain atrophy |
ORPHA:52430 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly, Coloboma |
ORPHA:141333 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica... |
OMIM:300244 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Scoliosis, Basal encephalocele, Cranium bifidum occultum |
ORPHA:391474 |
Galloway-Mowat Syndrome 4 |
|
Tapered finger, Cerebral atrophy, Plagiocephaly, Cerebellar hypoplasia, Primary microcephaly, Pol... |
OMIM:617730 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells |
OMIM:301830 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Congenital hip dislocation, Dolichocephaly, Wide anterior fontanel, Plagiocephal... |
ORPHA:457279 |
Joubert Syndrome 1 |
|
Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, El... |
OMIM:213300 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cataract, Abnormal dental enamel morphology, Micrognathia, Hypo... |
ORPHA:861 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c... |
OMIM:613684 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi... |
OMIM:619306 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Scoliosis |
ORPHA:220497 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Ventriculomegaly, Meningocele, Intracranial hemorrhage, Syringomyelia, Dandy-Wa... |
ORPHA:2481 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic ... |
OMIM:615574 |
Amish Lethal Microcephaly |
|
Death in infancy, Ventriculomegaly, Agenesis of corpus callosum, Spina bifida |
ORPHA:99742 |
Triploidy |
|
Finger syndactyly, Cataract, Intestinal malrotation, Micrognathia, Hydrocephalus, Meningocele, Cl... |
ORPHA:3376 |
Japanese Encephalitis |
|
Increased CSF protein concentration, Abnormal substantia nigra morphology, CSF pleocytosis, Elbow... |
ORPHA:79139 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tapered finger, Hydrocephalus, Short toe, Plagiocephaly, Delayed ossificat... |
OMIM:239300 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperin... |
ORPHA:79264 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Microp... |
OMIM:618820 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion, Increased CSF lactate |
OMIM:619046 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalu... |
ORPHA:2655 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lateral ven... |
ORPHA:2822 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Periventricular heterotopia, Micrognathia, Prominent nose, Pa... |
OMIM:616171 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Macrotia |
OMIM:300886 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Intestinal malrotation, Dep... |
ORPHA:7 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Scoliosis, Short nose |
ORPHA:894 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Joint c... |
OMIM:225790 |
Noonan Syndrome 13 |
|
Overlapping toe, Tapered finger, Microcephaly, Cubitus valgus, Metatarsus adductus, Micrognathia,... |
OMIM:619087 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta |
OMIM:268850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Scoliosi... |
OMIM:253800 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Hyperlordosis, Wide nasal bridge, Coarctation of aorta, Scoliosis, Aortic valve stenosis, Spina b... |
ORPHA:2780 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Microcephaly, Shortening of all distal phalanges of the fingers, Plagiocephaly, Lef... |
OMIM:614749 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Anterior pituitary hypoplasia, Microcephaly, Hip subluxation, Micr... |
OMIM:613457 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening ... |
OMIM:101600 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele |
ORPHA:521308 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Patent ductus arteriosus, Lateral ventricle dilatation, Br... |
OMIM:617397 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... |
OMIM:613451 |
Fraxe Intellectual Disability |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Prominent ear helix, Ste... |
ORPHA:100973 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Toe syndactyly, Single transverse palmar crease, Limited elbow movement, Proxima... |
OMIM:610759 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:167730 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypoplasia of penis, Abnormality of neuronal migration, Cleft palate |
ORPHA:2216 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Abnormality of neuronal m... |
ORPHA:2772 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis |
ORPHA:228390 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Death in childhood, Convex nasal ridge... |
OMIM:610333 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f... |
OMIM:225280 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... |
ORPHA:163966 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Optic atrophy, Wide nasal b... |
OMIM:614969 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Cryptorchidism, Decreased fertility, Wide nasal bridg... |
ORPHA:500 |
Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Microcephaly, Brachycephaly, Temporal cortical atrophy, Plagiocephaly, Hypoplasia of the corpus c... |
OMIM:618862 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Arachnodactyly, Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Reduced ... |
ORPHA:2720 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni... |
OMIM:600145 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... |
ORPHA:326 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy... |
OMIM:187600 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, V... |
ORPHA:99802 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Macrotia, Hypogonadotropic hypogonadism, Broad nasal tip |
OMIM:619420 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Depressed nasal bridge, Thyroid lymphangiectasia, Cryptorchidism, P... |
OMIM:235510 |
Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly, Small hand, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:620149 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Retinal dystrophy, Ataxia, Anteverted n... |
OMIM:608629 |
Pai Syndrome |
|
Encephalocele |
ORPHA:1993 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Ventriculomegaly, Retrocerebellar cyst |
ORPHA:1827 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Periventricular heterotopia, Micrognathia, Cryptorchidi... |
ORPHA:261250 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Talipes equinovarus, Clinodactyly |
OMIM:616789 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Anal atresia, Rocker bottom foot, Hydrocephalus, Patent ductus arteriosu... |
OMIM:612582 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease... |
ORPHA:168577 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple suture craniosyn... |
ORPHA:207 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse... |
ORPHA:464738 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, 4-layered lissencephaly, Abnormal retinal morphology, Abnormality o... |
ORPHA:89844 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Inability to walk, Wide nasal bridge, Cleft palate, Large earlobe, Lateral ventr... |
OMIM:615716 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Anisospondyly, Short neck |
ORPHA:1865 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microcep... |
OMIM:600325 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Plagio... |
OMIM:617193 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... |
OMIM:216360 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Spi... |
ORPHA:1926 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia, Patent ductus arteri... |
OMIM:618974 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Hyperactivity, Anteverted nares, Micrognathia, Cryptorchidism, Repetitive co... |
ORPHA:352490 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Short femur, Micromelia, Hypoplastic... |
ORPHA:1860 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Scoliosis |
ORPHA:1335 |
Emanuel Syndrome |
|
Micrognathia, High palate, Micropenis, Agenesis of corpus callosum, Bifid uvula, Dandy-Walker mal... |
ORPHA:96170 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Carious teeth, Palmar pits, Hy... |
ORPHA:377 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Hyperactivity, Anteverted nares, Aggressive behavior, Precocious puberty, Bulbo... |
OMIM:300958 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Cerebral cortical atrophy |
OMIM:607596 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Neu-Laxova Syndrome |
|
Ventriculomegaly, External genital hypoplasia, Spina bifida, Abnormal cortical gyration, Microgna... |
ORPHA:2671 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Small scrotum, Depressed nasal bridge, Cryptorchidism, Hydrocephalu... |
ORPHA:261344 |
Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Abnormal cerebellum morphology, Diffuse white matt... |
ORPHA:83597 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Cerebellar hypoplasia, Scoliosis, Ventriculomegaly |
OMIM:616038 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... |
ORPHA:404448 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Coach Syndrome 2 |
|
Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus call... |
OMIM:619111 |
Mohr Syndrome |
|
Syndactyly, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Post... |
OMIM:252100 |
3Mc Syndrome |
|
Hyperlordosis, Bilateral cryptorchidism, Abnormal nasal morphology, Prominent coccyx, Scoliosis, ... |
ORPHA:293843 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Frontal bossing, Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Chiari malfo... |
ORPHA:60040 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Choanal atresia, Dysplastic corpus callosum, Cryptorchidism, Hemivertebrae... |
OMIM:151050 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Micrognathia, Hyd... |
ORPHA:459061 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Hydrocephalus |
OMIM:236660 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Abnormal femur morphology, Upper limb asymmetry, Abnormal fibula morphology, Plagio... |
ORPHA:2063 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Narrow ... |
ORPHA:313781 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1812 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Bul... |
ORPHA:1237 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Micrognat... |
OMIM:300749 |
Halperin-Birk Syndrome |
|
Hearing impairment, Micrognathia, Inability to walk, Optic atrophy, Colpocephaly, Pseudobulbar pa... |
OMIM:618651 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Secondary microcephaly, Abnormal... |
ORPHA:485421 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Hemivertebrae, Cerebellar hypoplasia, Holoprosencephaly |
OMIM:264480 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Lissencephaly 6 With Microcephaly |
|
Anteverted nares, Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosu... |
OMIM:616212 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Mandibular prognathia, Hyperactivity, Periventricular heterotopia, ... |
OMIM:300624 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... |
OMIM:277450 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Posteriorly rotated ears, Anteverted nares, Aggressive behavior, Micrognathia, Bulbous no... |
OMIM:619320 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus, B... |
OMIM:220210 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Cerebral cortical atrophy |
ORPHA:2254 |
3Mc Syndrome 3 |
|
Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Facial cleft, Radioulnar synost... |
OMIM:248340 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Tapered finger, Facial cleft, Broad ... |
ORPHA:1236 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Craniosynostosis, Microcephaly, Patent ductus arteriosus, Plagiocephaly, Brach... |
ORPHA:457193 |
Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior, Micrognathi... |
OMIM:300831 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, Fin... |
OMIM:607932 |
Achondroplasia |
|
Frontal bossing, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx ... |
ORPHA:15 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation,... |
ORPHA:2181 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Dy... |
OMIM:608091 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Dysplastic corpus callosum, Periventricular cysts, Thick corpus call... |
ORPHA:544488 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Alg12-Cdg |
|
Ventriculomegaly, Overlapping fingers, Sandal gap, Ulnar deviation of the wrist, Proximal placeme... |
ORPHA:79324 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:260660 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo... |
OMIM:619841 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Intestinal malrota... |
OMIM:243605 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Epicanthus, Single transverse palmar crease, Campto... |
ORPHA:915 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Ventriculomegaly |
ORPHA:370980 |
6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly, Hydrocephalus, Patent ductus arteriosus |
ORPHA:251046 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Ulnar deviation of the hand, Sandal gap, Micrognathia, Partial agen... |
OMIM:619775 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Plagiocephaly, Abnormal cerebral white matter... |
OMIM:615471 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch... |
OMIM:101200 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Retinal pigment epithelial... |
OMIM:614105 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Aymé-Gripp Syndrome |
|
Rocker bottom foot, Craniosynostosis, Tapered finger, Hydrocephalus, Patent ductus arteriosus, Br... |
ORPHA:1272 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia... |
OMIM:219000 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Emanuel Syndrome |
|
Broad jaw, Ventriculomegaly, Intestinal malrotation, Delayed eruption of primary teeth, Micrognat... |
OMIM:609029 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... |
ORPHA:573278 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... |
ORPHA:457284 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... |
OMIM:180750 |
Pettigrew Syndrome |
|
Mandibular prognathia, Aggressive behavior, Aqueductal stenosis, Prominent nose, Hydrocephalus, S... |
OMIM:304340 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Brachycephaly, Macrocephal... |
OMIM:109120 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Microcephaly, Radial club hand, Holoprosencephaly, Abnormality... |
ORPHA:2165 |
Radio-Tartaglia Syndrome |
|
Micrognathia, High, narrow palate, High palate, Conductive hearing impairment, Agenesis of corpus... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Sensorineural hearing impairment, Abnormality of neuronal migration, Gait disturb... |
OMIM:300957 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent scrotal raphe... |
ORPHA:1555 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer |
OMIM:619101 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Anisospondyly |
OMIM:224410 |
Trisomy 20P |
|
Frontal bossing, Finger syndactyly, Camptodactyly of finger, Spina bifida, Micrognathia, Preaxial... |
ORPHA:261318 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Sirenomelia |
ORPHA:3169 |
Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Proximal placement of thumb, Microcephaly, Micrognathia, Small hand, Brac... |
OMIM:300590 |
Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly, Ventriculomegaly, Microcephaly |
OMIM:618792 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Premature ovarian insufficiency, Ataxia |
OMIM:615889 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Micrognathia, Persistence of primary teeth,... |
OMIM:618342 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Broad long bones, Sparse eyelashes, Telecanthus, Fifth fin... |
OMIM:257850 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ... |
OMIM:156510 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia... |
ORPHA:2612 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Brachycephaly, Plagiocephaly, Toe clinodactyly, Clinodactyly of the 5th finger |
OMIM:619910 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly |
OMIM:615983 |
Carey-Fineman-Ziter Syndrome 1 |
|
Microcephaly, Tapered finger, Micrognathia, Trismus, Plagiocephaly, Hypoplasia of the brainstem, ... |
OMIM:254940 |
Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, Progressive macrocephaly, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Arachnodactyly, Slender long bones with narrow diaphyses, Ace... |
ORPHA:536467 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Cryptorchidism, Vertebral segmentation defect, Hypogonadism, Scoliosis, Umbilical hernia, Spina b... |
ORPHA:2990 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, High palate, Choanal stenosis, Abnormal repetitive mannerisms, Death in infancy, An... |
OMIM:615485 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis ... |
OMIM:166300 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H... |
OMIM:612651 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Hypointensity of cerebral white matter on MRI, Progressive macrocephaly, Abno... |
ORPHA:845 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Wide nasal ... |
ORPHA:2075 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou... |
OMIM:236500 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Bilateral coxa ... |
ORPHA:439822 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Short n... |
OMIM:616430 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Abnormal preputium morpho... |
ORPHA:293725 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Hypoplasia of the maxilla, Malar flattening, Downslanted palpeb... |
ORPHA:261295 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Prominent nasal bridge, Aggressive behavior, Micrognathia, Cryptorchidism, Patent du... |
OMIM:618659 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly |
OMIM:619927 |
17Q21.31 Microduplication Syndrome |
|
Short nose, Anteverted nares |
ORPHA:217340 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,... |
ORPHA:228396 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hyd... |
OMIM:601499 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Tethered cord, Ventriculomegaly, Moyamoya phenomenon |
ORPHA:401986 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Micrognathia, Decreased head circumference, Brachycephaly, Shortening of a... |
ORPHA:247262 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Brachydactyly |
OMIM:614819 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spondylolisthesis, Thick nasal alae, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spondylolisthesis, Thick nasal alae, Agenesis of corpus callosum, Spina bifida, Hyperlordosis, Cr... |
ORPHA:363958 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Molar tooth sign on MRI, Agenesis of ... |
OMIM:277170 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Micrognathia, Hydrocephalus, Opti... |
ORPHA:3301 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ... |
OMIM:101800 |
Vacterl/Vater Association |
|
Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Ane... |
ORPHA:887 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Pa... |
OMIM:608328 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ... |
OMIM:617866 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Patent ductus arteriosus after birth at term, Hypoplasia of the olfact... |
ORPHA:251061 |
Larsen Syndrome |
|
Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Spinal cord compression, Cryptorchid... |
OMIM:150250 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Co... |
OMIM:307000 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Cryptorchidism, Scoliosis, Short nose, Convex nasal ridge |
ORPHA:1695 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t... |
ORPHA:3152 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, High palate, Anteverted nares, Death in childhood |
OMIM:269920 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Short neck, Dysplastic corpus callosum,... |
OMIM:619955 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callos... |
ORPHA:2182 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Esopha... |
ORPHA:77298 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Hydroceph... |
OMIM:123500 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Optic disc hypoplasia, Esophageal atresia, Hydr... |
OMIM:300514 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal cerebral white matter morphology, Abnormal thalamic MRI signal intensity, Hypoplasia of ... |
ORPHA:254930 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, ... |
OMIM:301030 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... |
ORPHA:1553 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Choanal atresia, Fused cervical vertebrae, Choanal stenosis, Sco... |
OMIM:607323 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ... |
ORPHA:506 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Micrognathia, Simplified gyral pattern, Lateral ventricle dilatation, Lis... |
ORPHA:284417 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalang... |
OMIM:615630 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Wide anterior fontanel, Hand polydactyly, Downslanted palpebral fissure... |
OMIM:239710 |
Dubowitz Syndrome |
|
Sacral dimple, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Wide anterior fontanel, Sco... |
ORPHA:235 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Broad hallux, Deviation of the hallux, Microcephaly,... |
ORPHA:434179 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S... |
ORPHA:93323 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later... |
OMIM:619517 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
7Q11.23 Microduplication Syndrome |
|
Micrognathia, Simplified gyral pattern, Dysmetria, Abnormal optic disc morphology, High palate, A... |
ORPHA:96121 |
Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypoplasia ... |
OMIM:610829 |
Hydranencephaly |
|
Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Cerebral cortical atrophy, Primary micr... |
ORPHA:2177 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Single transverse palmar crease, Microcephaly, Patent ductus arteriosus, Patellar aplasia, Brachy... |
ORPHA:495818 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Microcephaly, Patent ductus arteriosus, Hip dislocation, Brachycephaly, Cerebral... |
OMIM:618268 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Pyloric stenosis, Dental malocclusion, High palate, Dandy-Walker m... |
OMIM:310400 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Cerebellar atrophy, Microcephaly, Tapered finger, Brachycephaly, Neuro... |
OMIM:301072 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Hydrocephalus, Cherry red ... |
ORPHA:93400 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Flat occiput, Microcephaly, Abnormal thumb morphology, Abno... |
ORPHA:2511 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Lateral ventricle dilatation, Simplified gyral pattern |
OMIM:617668 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Wide anterior fonta... |
OMIM:601390 |
Cleidocranial Dysplasia |
|
Abnormal sacrum morphology, Spina bifida occulta, Depressed nasal bridge, Scoliosis |
ORPHA:1452 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Micro... |
OMIM:615656 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Sensorineural hearing impairment, Protr... |
OMIM:617854 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly, Tapered finger, Brachydactyly, Microcephaly |
OMIM:619680 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Wide nasal brid... |
OMIM:300373 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, ... |
OMIM:619995 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Antenatal intracerebral hemorrhage, Bulbous nose, Dilated cardiomyopathy, Nasal... |
OMIM:608836 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Gait di... |
OMIM:221770 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Micrognathia, Retina... |
OMIM:620155 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Prominent interphalangeal joi... |
OMIM:618371 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Micrognathia, Anteriorly placed anus, High palate, Advanced eruption of teeth, Age... |
OMIM:619148 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Microcephaly, Slender finger, Abnormal ce... |
ORPHA:1449 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Epicanthus, Micrognathia, Hypoplasia of the... |
OMIM:615546 |
Au-Kline Syndrome |
|
Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ... |
OMIM:616580 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Fetal Gaucher Disease |
|
Death in infancy, Depressed nasal bridge, Anteverted nares, Intracranial hemorrhage, Stillbirth, ... |
ORPHA:85212 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Hyperactivity, Wide nose, Abnormal pinna morphology, Anteverted nares,... |
OMIM:614607 |
Leopard Syndrome 1 |
|
Bundle branch block, Kyphoscoliosis, Short neck, Cryptorchidism, Depressed nasal ridge, Hypertrop... |
OMIM:151100 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, High palate, Pachygyria, Agenesis of corpus callosum, Death in infancy, Hypospadias... |
OMIM:614866 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Lateral ventricle dilatation, Micrognathia |
OMIM:618266 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, H... |
OMIM:259700 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Elbow dislocation, Postaxial hand polyd... |
ORPHA:2916 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ... |
ORPHA:3412 |
Trisomy 17P |
|
Hypoplasia of penis, Wide nose, Micrognathia, Prominent nose, Patent ductus arteriosus, Hydroceph... |
ORPHA:261290 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal ep... |
ORPHA:2770 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, ... |
OMIM:304050 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Clinoda... |
OMIM:610023 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Retinal detachment, Cataract, Abnormal pupil ... |
ORPHA:2969 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Micrognathia, Patent ductus... |
OMIM:602398 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Scoliosis, Aplasia/Hypoplas... |
ORPHA:1454 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Megalocornea, Agenes... |
ORPHA:137675 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Wide nose, Depressed nasal bridge, Broad nasal tip, Valvula... |
OMIM:300707 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Depressed nasal bridge, Hamartoma of tongue, Inability to walk, Gray matter heterotopia, ... |
OMIM:617563 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Micrognathia, Patent ductus arteriosus, Pre... |
OMIM:618142 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide anterior fontanel, Epicanthus, Hydrocephalus |
OMIM:614886 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Dolichocephaly, Micrognathia, Macrocephaly, Plagiocephaly, Abnormal cerebral white... |
ORPHA:75857 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Natal tooth, Hypospadias, Posteriorly rotated ears, Anteverted nares, Depressed na... |
OMIM:123790 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... |
OMIM:618273 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Congenital hip dislocation, Micrognathia, Fractures of the long bones, Plagio... |
ORPHA:496641 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Wide nose, Death in early adultho... |
ORPHA:192 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele |
ORPHA:2128 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Prominent nose, Bilateral cryptorchidism, Cryptorchidism, Wide anterior fontanel, R... |
OMIM:180849 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Joint stiff... |
ORPHA:585 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera... |
ORPHA:79243 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, P... |
OMIM:130720 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Aplastic clavicle, Postaxial polydactyly, Hamartoma of tongue, Hydrocephalus, Anencep... |
OMIM:616546 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Periventricular heterotopia, Hydrocephalus, Bulbous nose, Optic atrophy... |
OMIM:618476 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... |
OMIM:603546 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Talipes equinovarus, Short pa... |
ORPHA:85279 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Death in infancy, Abnormal cortical gyration, Postaxial polydactyly, Microcep... |
OMIM:614576 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Cataract, Toe syndactyly, Hydrocephalus, Patent ductus arteriosus, Short fo... |
ORPHA:250989 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Anteverted nares, High, narrow palate, Patent ductus arteriosus, Hydrocephalus, Cupped ear, Submu... |
OMIM:612863 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... |
OMIM:155050 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Intestinal malrotation, Female infertility, Hydrocephalus, Nas... |
ORPHA:244 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Myelomeningocele,... |
OMIM:311200 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Plagiocephaly,... |
ORPHA:2021 |
Jacobsen Syndrome |
|
Death in infancy, Anteverted nares, Spina bifida, Short neck, Cryptorchidism, Wide nasal bridge, ... |
ORPHA:2308 |
Optic Pathway Glioma |
|
Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
Holoprosencephaly |
|
Encephalocele, Short neck, Hydrocephalus, Spinal cord tumor, Abnormal form of the vertebral bodie... |
ORPHA:2162 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Osteolysis involving bones of the upper limbs, Osteolysis involving bones... |
ORPHA:88630 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
Idiopathic Camptocormia |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Plagiocephaly, Increased car... |
OMIM:261990 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Hyperactivity, Small scrotum, Prominent nose, Long nose, Cryptorchidism, G... |
OMIM:300486 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Ptosis, Telecanthus, Arachnodactyly, Micrognathia, Metatarsus adductus, Wide anterior fontanel, M... |
OMIM:182212 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Cataract, Congenital hip dislocation, Joint hypermobility, Dec... |
OMIM:616007 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Posterior plagiocephaly, Rhizomelic arm shortening, Short ... |
ORPHA:96190 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Simplified gyral pattern, Microphallus, Pachygyria, Abnormal repetitive mannerisms, Agenesis of c... |
ORPHA:468631 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... |
ORPHA:2031 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology |
ORPHA:70595 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604320 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micrognathia, Partial agenesis of the corpus callosum, Holoprosence... |
OMIM:270400 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Microcephaly, Partial agenesis of the corpus callosum, Small hand, ... |
ORPHA:50 |
Cog5-Cdg |
|
Posteriorly rotated ears, Prominent nose, Cryptorchidism, Sensorineural hearing impairment, Wide ... |
ORPHA:263487 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx,... |
OMIM:601707 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr... |
OMIM:301043 |
Duane Retraction Syndrome |
|
Anteverted nares, Short neck, Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:233 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Cupped ear, S... |
ORPHA:314588 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ventriculomegaly, Wide nose, Hypospadias, Posteriorly rotated ears, Anteverted nar... |
OMIM:257300 |
Achondroplasia |
|
Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Death in infancy, Megalen... |
OMIM:100800 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, Subependymal cysts, High palate, Death in childhood, Loss of a... |
OMIM:214100 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Joubert Syndrome 8 |
|
Occipital encephalocele |
OMIM:612291 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Postaxial polydactyly, Megalencephaly, Hydrocephalus, Thick corpus callosum, Hyp... |
OMIM:603387 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Stillbirth, Anal atresia |
OMIM:276950 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Abnormal periventricular white matter morphology, Dilated third ventricle, Microcephaly |
OMIM:619725 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Hyperactivity, Velopharyngeal insufficiency, Self hugg... |
OMIM:182290 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Scoliosis |
OMIM:618379 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, External ge... |
ORPHA:177907 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Hyperactivity, Uplifted earlobe, Impulsivity, Macroorchidism, Short nose |
OMIM:300143 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c... |
OMIM:615599 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Cataract, Ectopia lentis, Hypoplasia of the maxilla, Joint stiffness, Patent du... |
OMIM:277600 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Decreased skull os... |
OMIM:602361 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad nasal tip, Short neck, Depressed nasal tip, Wide nasal base, Spina bifida occulta, Broad co... |
ORPHA:488434 |
Atelosteogenesis, Type I |
|
Encephalocele, Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coronal cleft verteb... |
OMIM:108720 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617516 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Polymicrogyria, Agyria, ... |
OMIM:616538 |
Pontocerebellar Hypoplasia, Type 13 |
|
Anteverted nares, Inability to walk, Volvulus, Gait ataxia, Lateral ventricle dilatation, High pa... |
OMIM:618606 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype... |
ORPHA:464 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Hydrocephalus, Patent ductus arteriosus, High palate, Camptoda... |
OMIM:614846 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Microcephaly, Brachycephaly, Plagiocephaly, Retrognathia, Midface retrusion |
OMIM:618644 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Cleft palate, Hypoplasia of the uterus, Pigmentary retinop... |
OMIM:309801 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Hearing impairment, Cupped ear, Short nose, Protruding ear, Colpocephaly, Micro... |
OMIM:618619 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Spars... |
ORPHA:178303 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c... |
OMIM:608154 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Anteverted nares, Proboscis, Periventricular heterotopia, Aqueductal stenosis, ... |
OMIM:619895 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Hydrocephalus, Ulnar... |
OMIM:207410 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Microcornea, Dandy-Walker malformation, Encephalocele, ... |
ORPHA:564 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares, Short neck |
ORPHA:1832 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Sacral dimple, Wide anterior fontanel, Patent ductus arteriosus, Spi... |
OMIM:257920 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Epicanthus, Congenital hip dislocation, Deviation of finger, Malar ... |
ORPHA:2412 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... |
ORPHA:314585 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Upslanted palpebral fissure, Hypoplasia of the maxilla, Synophrys, Thick eyebrow |
OMIM:618737 |
Even-Plus Syndrome |
|
Short neck, Bifid nasal tip, Dysplastic corpus callosum, Vertebral clefting, Depressed nasal ridg... |
OMIM:616854 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Wide nose, Spina bifida, Short neck, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:256520 |
Monosomy 18Q |
|
Mandibular prognathia, Depressed nasal bridge, Abnormal retinal morphology, Prominent nose, Bilat... |
ORPHA:1600 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Posteriorly rotated ears, Depressed nasal bridge, Supernumerary nipple, Micrognathia, Prominent n... |
OMIM:619951 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Syndactyly, Cerebellar vermis hypoplasia, Mesoaxial polydactyly, Micrognathia, C... |
ORPHA:2754 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Ventriculomegaly, Heari... |
ORPHA:457260 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Knobloch Syndrome |
|
Occipital encephalocele, Retinal detachment, Cataract, Ectopia lentis, Pyloric stenosis, Hydrocep... |
ORPHA:1571 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption... |
OMIM:614753 |
Peho-Like Syndrome |
|
Short nose, Ventriculomegaly |
OMIM:617507 |
Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Wi... |
ORPHA:3309 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Gray matter heter... |
OMIM:615960 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Patent ductus arteriosus, Occipita... |
OMIM:267750 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Upslanted palpebral fissure, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Short neck, Umb... |
OMIM:613544 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal ma... |
ORPHA:2166 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose, Ventriculomegaly, Short neck |
ORPHA:217385 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Wide nose, Micrognathia, Cryptorchidism, Patent ductus ... |
ORPHA:261337 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... |
OMIM:605627 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Dandy-Walker malformation |
ORPHA:438178 |
Mend Syndrome |
|
Microretrognathia, Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,... |
OMIM:300960 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Corneal opacity, Craniosynostosis, Micrognathia, Developmental glauc... |
ORPHA:1064 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, Patent ductus arteriosu... |
OMIM:618162 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... |
OMIM:615986 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism |
OMIM:617660 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oligodactyly, Triphalang... |
OMIM:154400 |
Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus, Optic atrophy |
OMIM:245200 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Vertebral wedging, ... |
OMIM:109400 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Cleft palate, Talipes equinovarus, Slender finger, Dandy-Walk... |
OMIM:147800 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Shoulder dislocation, Dislocated radial head, Microretrognathia, Rhizom... |
OMIM:245600 |
Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Broad hallux, Corneal opacity, Hydrocephalus, Increased CSF protein concentrati... |
OMIM:272200 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Umbilical hernia, Microcephaly |
OMIM:616579 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tr... |
ORPHA:3078 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Rhizomelia, Megalencephaly, Wide anterior fontanel, Hydrocephalus, Femoral bowin... |
OMIM:616482 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Broad nasal tip, Patent ductus arteriosus, Wide nasal bridge, Cardiomyopath... |
OMIM:135500 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Abnormal morphology of the radius, Absent septum pellucidum, Abnormal cortical g... |
ORPHA:2538 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, Dentinogenesis imperfecta, Lambd... |
OMIM:616294 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Epicanthus, Micrognathia, Split hand, Congenital fibrosis of extraocul... |
OMIM:157900 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Posteriorly rotated ears, Micrognathia, Broad nasal tip, Cryptorchidism, Lateral v... |
OMIM:617557 |
Isolated Posterior Meningocele |
|
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... |
ORPHA:268810 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Depressed nasal bridge, Anteverted nares, Increased intervertebral s... |
OMIM:618961 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... |
ORPHA:2980 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1450 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... |
OMIM:616914 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology, Abnormal dentate nuc... |
ORPHA:48818 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly, Single transverse palmar crease, Microcephaly |
OMIM:618106 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Vertebral clefting, Depressed nasal ridge, Short columella, Scoliosis, Ab... |
ORPHA:1248 |
Cranioectodermal Dysplasia 2 |
|
Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Craniosynostosis, Dolichocephaly, Micr... |
OMIM:613610 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cataract, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification,... |
ORPHA:93271 |
1Q44 Microdeletion Syndrome |
|
Optic disc hypoplasia, Intestinal malrotation, Micrognathia, Hydrocephalus, High palate, Agenesis... |
ORPHA:238769 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Turricephaly, Agenesis of cerebellar vermis, Cerebellar ver... |
OMIM:601853 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2370 |
Holoprosencephaly 1 |
|
Cerebellar hypoplasia, Ethmocephaly, Facial cleft, Alobar holoprosencephaly |
OMIM:236100 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Brachycephaly, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnor... |
ORPHA:95699 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Abnormal eyelid morphology, Carious teeth, Ectropion of lower eyelids, Euryble... |
ORPHA:1997 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Hypospadias, Depressed nasal bridge, Cryptorchidism, Gait dis... |
ORPHA:457485 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Posteriorly rotated ears, Long nose, Patent ductus arteriosus, Partial agenesis of the corpus cal... |
OMIM:620113 |
Mend Syndrome |
|
Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ... |
ORPHA:401973 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Simpl... |
OMIM:615948 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Anteverted nares, Sensori... |
ORPHA:44 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation, Brachycephaly, Talipes equinovarus |
OMIM:619972 |
Peho Syndrome |
|
Cerebellar atrophy, Microcephaly, Tapered finger, Hydrocephalus, Porencephalic cyst, Biparietal n... |
ORPHA:2836 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Short neck, Wide ... |
ORPHA:508498 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Short neck |
OMIM:619879 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Neural tube defect, Euryblepharo... |
OMIM:119580 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia... |
OMIM:620073 |
Helsmoortel-Van Der Aa Syndrome |
|
Short lower limbs, Decreased response to growth hormone stimulation test, Sandal gap, Broad hallu... |
OMIM:615873 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short nose, Ventriculomegaly |
ORPHA:1495 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis |
ORPHA:600 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Anteverted nares, Depressed nasal bridge, Asymmetry of the ears, Prominent nose, B... |
OMIM:617796 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Sensorineural hearing impairment, Sel... |
OMIM:620075 |
Pierpont Syndrome |
|
Wide nose, Short neck, Broad nasal tip, Cryptorchidism, Scoliosis, Short nose |
OMIM:602342 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide anterior fontanel, Upsla... |
OMIM:300963 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Type II lissencephaly, Micrognathia, Pachygyria, Hydrocephalus, Optic ... |
OMIM:253280 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Prominent nose, Dysplastic corpus callosum, Hydrocephalus, Macrotia, Optic atrophy... |
OMIM:617281 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Cryptorchidism, Scoliosis, Arrhythmia |
ORPHA:2874 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Hea... |
OMIM:619575 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Kyphoscoliosis, Cerebral hemorrhage, Atlantoaxial instability, Subdura... |
ORPHA:536545 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge |
ORPHA:79326 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
ORPHA:2776 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Microcephaly, Brachycephaly, Thick corpus callosum, Genu valgum, Posterior plagiocep... |
OMIM:617798 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Relative macrocephaly, Frontal bossing, Hallux valgus, Anterior pituitary hypoplasia, Dysplastic ... |
ORPHA:466791 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis |
ORPHA:300605 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Cohen Syndrome |
|
Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Hypoplasia of th... |
OMIM:216550 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Adducted thumb |
ORPHA:275543 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Frontal bossing, Brachydactyly, Mandibular prognathia, Sandal gap, Deviation o... |
OMIM:616268 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Tarsal synostosis, Aplastic clavicle, Micrognathia, Parietal foramina, Abnormal ... |
ORPHA:85199 |
Hallermann-Streiff Syndrome |
|
Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Hyperlordosis, Cryptorchidism, T... |
OMIM:234100 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Osteopenia, Recurrent fractures, Micrognathia, Hydrocephalus, Reduce... |
OMIM:112240 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Anteverted ears, Cryptorchidism, Patent ductu... |
OMIM:610443 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cervical kyphosis, Cerebral hemorrhage, Kyphosis, Hydrocephalus, Vertebral ... |
ORPHA:666 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Scoliosis |
ORPHA:306669 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Micrognathia, Increased femoral anteversion, Plagiocephaly, Death in childhood, ... |
OMIM:619005 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Colpocephaly, Low-set ears, Choking episodes, Agenesis of corpu... |
OMIM:620352 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Hypospadias, Abnormal pinna morphology, Hearing impairment, Agg... |
OMIM:123450 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal... |
OMIM:611209 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Proximal placement of thumb, Micrognathia, Wide anterior fontane... |
OMIM:217980 |
Fg Syndrome 3 |
|
Death in infancy, Hyperactivity, Cryptorchidism, Pyloric stenosis, Sensorineural hearing impairme... |
OMIM:300406 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Aggressive behavior, Wide nasal bridge, Dysmetria, Athetosis, L... |
ORPHA:572798 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Mandibular prognathia |
ORPHA:85290 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Decreased response to growth... |
OMIM:146510 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Short nose, Depressed nasal bridge |
ORPHA:261120 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
Trisomy 18 |
|
Choanal atresia, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Short nose |
ORPHA:3380 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Abnormal eyelid morphology, Abnorm... |
ORPHA:193 |
Hypomelanosis Of Ito |
|
Syndactyly, Cataract, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Clin... |
OMIM:300337 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Hurler Syndrome |
|
Corneal opacity, Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hydrocephalus, Meta... |
OMIM:607014 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly |
OMIM:615982 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Partial agenesis of the corpus callosum, Brachycephaly, Prominen... |
OMIM:135900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Sensorineural hearing impairment, Death in childhood, Lateral ventricle dilatatio... |
OMIM:619847 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Tongue thrusting |
ORPHA:77299 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Cryptorchidism, Myelomening... |
ORPHA:1752 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, Death in childhood |
OMIM:620278 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Brachycephaly, Coxa vara, 2-3 toe synd... |
OMIM:614701 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... |
OMIM:620141 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Reduced cerebral white matter volume, Broad 2nd toe, ... |
OMIM:280000 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate, Choanal stenosis, De... |
OMIM:602535 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Hypospadias, Ataxia, Micrognathia, Hypoplasia of the maxilla, Dysplastic corpus ca... |
ORPHA:314679 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Dandy-Walker malformation, Retinal dystrophy, Ventriculomegaly |
OMIM:617622 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Upsl... |
ORPHA:79113 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Broad nasal tip, Partial agenesis of the corpus callosum, Patent duc... |
OMIM:619480 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Anteverted nares, Truncus arteriosus, Broad nasal tip, Short ne... |
OMIM:615583 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto... |
ORPHA:79239 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Periventricular heterotopia, Patent ... |
OMIM:618870 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Microcephaly, Hydrocephalus, Chiari type I malformation, Chromoso... |
OMIM:617244 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Sudden cardiac death, Meningocele, Pulmonary arter... |
ORPHA:991 |
Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Hydrocephalu... |
OMIM:147791 |
Galloway-Mowat Syndrome |
|
Hiatus hernia, Aqueductal stenosis, Pachygyria, Micrognathia, Abnormality of neuronal migration, ... |
ORPHA:2065 |
Gapo Syndrome |
|
Frontal bossing, Micrognathia, Wide anterior fontanel, Plagiocephaly, Eruption failure, Umbilical... |
OMIM:230740 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Malar flattening, Micrognathia, Hypoplasia of t... |
OMIM:212780 |
Weaver Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Patent ductus arteriosus, Retrogna... |
OMIM:277590 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Short neck, Congestive heart failure, Depressed nasal ridge, Hypoplastic sacr... |
OMIM:105650 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Ptosis, Single transverse palmar crease, Hyp... |
OMIM:305400 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Shallow orb... |
OMIM:166250 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hydrocephalus, Osteoporosis, Hypoplasia of the brainstem, Clinodactyly, Ventriculomegaly |
ORPHA:2169 |
Tetrasomy 9P |
|
Micrognathia, Inappropriate behavior, High palate, Micropenis, Pachygyria, Bifid uvula, Dandy-Wal... |
ORPHA:3310 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Intracra... |
OMIM:617053 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Ataxia, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip an... |
ORPHA:2003 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,... |
OMIM:251750 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Supernumerary verte... |
OMIM:193500 |
Hypophosphatasia, Infantile |
|
Death in infancy, Vertebral clefting, Intracranial hemorrhage, Platyspondyly, Stillbirth, Unossif... |
OMIM:241500 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Scoliosis |
OMIM:618218 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Ptosis |
OMIM:218000 |
Peters Plus Syndrome |
|
Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Hydrocephalu... |
ORPHA:709 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Lhermitte-Duclos Disease |
|
Ataxia, Hydrocephalus, Ovarian neoplasm, Macroglossia, Polymicrogyria |
ORPHA:65285 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Cerebral cortical atrophy |
OMIM:606353 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Tenorio Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Hydrocephalus, Macroglossia, Gait disturbance... |
OMIM:616260 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Parkes Weber Syndrome |
|
Back pain, Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformati... |
ORPHA:90307 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of... |
OMIM:269860 |
Nephronophthisis 18 |
|
Hydrocephalus, Retinitis |
OMIM:615862 |
Seckel Syndrome 1 |
|
Hyperactivity, Hypospadias, Abnormal pinna morphology, Micrognathia, Prominent nose, Cryptorchidi... |
OMIM:210600 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Partial ... |
OMIM:210710 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel... |
OMIM:614831 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Clinodactyly, Retrognathia |
OMIM:619092 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Cleft ala nasi, Broad nasal tip, Cryptorchidism, Hydrocephalus, Myelomeningo... |
OMIM:305600 |
Williams Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal form of the vertebral bodi... |
ORPHA:904 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Micrognathia, Gray matter heterotopia, Macrotia |
OMIM:619694 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele |
ORPHA:2119 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Short neck |
ORPHA:221054 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Intestinal pseudo-ob... |
OMIM:309900 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Micrognathia, Hydrocephalus, Cranial hyperosto... |
OMIM:259720 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Abnor... |
ORPHA:163681 |
Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Scoliosis |
OMIM:617466 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Developmental cataract |
OMIM:600559 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Hypertension, ... |
OMIM:613320 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo... |
OMIM:616462 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Short nose, Scoliosis |
ORPHA:2429 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Molar tooth sign on MRI, Agenesis of cor... |
OMIM:249000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperactivity, Prominent nasal bridge, Aggressive behavior, Micrognathia, Hy... |
OMIM:309520 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Sparse eyebrow, Abnormal eyelash morphology, Hypoplasia of the m... |
ORPHA:2399 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Microcephaly, Hydrocephalu... |
OMIM:612940 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Wide nose, Micrognathia, Hydrocephalus, Stillbirth, Low-set e... |
OMIM:617667 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Aortic... |
OMIM:243310 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia |
OMIM:243440 |
Frontometaphyseal Dysplasia |
|
Fused cervical vertebrae, Spina bifida occulta, Wide nasal bridge, Scoliosis |
ORPHA:1826 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Cerebral atrophy |
OMIM:611890 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Wide na... |
OMIM:614083 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Hypospadias, Prominent nasal bridge, Cryptorchidism, Paten... |
ORPHA:464311 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Scoliosis, Spinal dysraphism |
OMIM:612918 |
Doors Syndrome |
|
Abnormal finger morphology, Brachycephaly, Triphalangeal thumb, Clinodactyly of the 5th finger, S... |
ORPHA:79500 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Short nose, Tetralogy of Fallot, Agenesis of corpus callosum |
OMIM:300887 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Aplasia of the premaxilla, Remnants of the hyaloid vascular system, ... |
OMIM:157170 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Sensorineural hearing impairment, Optic at... |
ORPHA:1493 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Cranium bifidum occultum, Eyelid coloboma, S-shaped palpebral fissu... |
OMIM:229400 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Holoprosencephaly, Sco... |
ORPHA:280200 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation of fin... |
ORPHA:1101 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep... |
ORPHA:783 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Highly arched eyebrow, Genu varum, Hip dislocation, Deep palmar crease, Long eyelashe... |
OMIM:619451 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia |
OMIM:615771 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Elongated superior cerebellar peduncle |
OMIM:615636 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Death in infancy |
OMIM:226700 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatation, Tip-toe g... |
ORPHA:565624 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly, Wide anterior fontanel, Ventriculomegaly, Micrognathia |
OMIM:618548 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Patent ductus arteriosus, Long nose |
ORPHA:2184 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Ovoid vertebral bodies, Short nose |
ORPHA:969 |
Martsolf Syndrome 1 |
|
Short metacarpal, Epicanthus, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopa... |
OMIM:212720 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Ectropion, Micromelia, Abnorma... |
ORPHA:3258 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Cataract, Palmar pits, Hydrocephalus, Joint hyperflexibility, Polydact... |
ORPHA:77301 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachydactyly |
ORPHA:776 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Turricephaly, Crumpled long bones, Bowing of the lo... |
ORPHA:2050 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri... |
OMIM:616367 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal aortic arch morphology, Spina bifida, Cryptorchidism, Patent ductus arterios... |
ORPHA:567 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Micrognathia, Patent ductus ... |
ORPHA:444077 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Clinodactyly of the 5th fing... |
OMIM:619539 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... |
OMIM:610188 |
Silver-Russell Syndrome 1 |
|
Frontal bossing, Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:180860 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Fanconi Anemia |
|
Choanal atresia, Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Tetralogy... |
ORPHA:84 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Wide anterior fontanel, Umbilical hernia, Short nose, Ven... |
OMIM:616638 |
Genitopatellar Syndrome |
|
Small scrotum, Micrognathia, Prominent nose, Anteriorly placed anus, Micropenis, Pachygyria, Agen... |
OMIM:606170 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Myelopathy, Posterior subcapsular cat... |
ORPHA:637 |
Poland Syndrome |
|
Encephalocele, Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Vertebral segmentation defect... |
ORPHA:2911 |
Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the nose, Neural tube defect, Macroglossia, High palate... |
ORPHA:79321 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:213200 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
Bohring-Opitz Syndrome |
|
Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Abnormal optic nerve morphology, ... |
OMIM:605039 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ataxia, Posteriorly rotated ear... |
OMIM:619229 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Ptosis, Symphalangism affecting the phal... |
ORPHA:710 |
Cloacal Exstrophy |
|
Myelomeningocele, Hemivertebrae, Spina bifida |
ORPHA:93929 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow, Short ... |
ORPHA:73246 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, Cryptorchidism, S... |
ORPHA:2789 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Cryptorchidism, Abnormal tongue morphology, Gray matter heterotopia, Difficulty... |
ORPHA:531151 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy |
OMIM:215470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Restlessness, Hyperactivity, Prominent nasal bridge, Aggressive behavior, ... |
OMIM:300534 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Hyperactivity, Hypospadias, Anteverted nares, Precocious puberty, Cryptorchi... |
ORPHA:254346 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Arachnodactyly, Protrusio acetabuli, Ectopia lentis, Micrognathia, ... |
OMIM:154700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryp... |
OMIM:614613 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Thoracic scoliosis, Anteverted nares, Broad nasal ti... |
ORPHA:508488 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge... |
OMIM:104350 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Craniosynostosis, Microcephaly, Micrognathia, Short thumb, Patent duc... |
OMIM:619488 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose, Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
B4Galt1-Cdg |
|
Low-set ears, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:79332 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Conductive hearing impairment, Ataxia, Depressed nasal ridge |
ORPHA:1861 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Microcephaly, Plagiocephaly, Hip dysplasia, Branchial anomaly, Hypoplasia of th... |
ORPHA:453499 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Bilateral cryptorchidism, ... |
OMIM:619859 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, High palate, Conductive hearing impairment, Thickened helices, Pachygyria,... |
OMIM:607872 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Small scrotum, Broad-based gait, Aggressive behavior, Micrognathia, Cryptorchidism... |
OMIM:609625 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Ectropion of lo... |
ORPHA:246 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Hemangioblastoma |
|
Retinal capillary hemangioma, Hydrocephalus |
ORPHA:252054 |
Ulnar Hemimelia |
|
Butterfly vertebrae, Scoliosis, Spinal dysraphism |
ORPHA:93320 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Abnormal pinna morphology, Bifid uterus, Micrognathia, A... |
OMIM:236680 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Retrognathia, Bifid uvula |
ORPHA:2736 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Hypogonadism, Short nose, S... |
OMIM:302950 |
Mosaic Trisomy 1 |
|
Microretrognathia, Abnormal pinna morphology, Depressed nasal bridge, Wide nasal bridge, Cleft pa... |
ORPHA:1692 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy |
OMIM:619054 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty... |
ORPHA:264450 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares |
OMIM:617991 |
Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Sc... |
ORPHA:624 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Slender nose, Scoliosis, Short nose |
OMIM:615419 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Lateral ventricle dilatation, Microtia, Low-set ... |
OMIM:301025 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Short nose, Scoliosis |
ORPHA:2598 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Scoliosi... |
ORPHA:2092 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe, Midface retrusion |
OMIM:612581 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Corneal opacity, Joint stiffness, Carious teeth,... |
OMIM:253200 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognath... |
ORPHA:2268 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Spina bifida occulta |
OMIM:119500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Micrognathia, Epispadias, Vitritis, Retinal dysplasia, Abnormal fallopia... |
ORPHA:2556 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Lacrimal duct atresia, 2-3 toe syn... |
OMIM:106260 |
Perlman Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:2849 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Cryptorchidism, Patent ductus arteriosu... |
OMIM:618316 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Intestinal malrotation, Micrognathia, Hydrocephalus, Patent ductus arte... |
OMIM:102500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, High palate, Compulsive behaviors, Conductive hearing impairment, Abnormal repetiti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, High palate, Compulsive behaviors, Conductive hearing impairment, Abnormal repetiti... |
ORPHA:353277 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidi... |
OMIM:247200 |
Basal Cell Nevus Syndrome 2 |
|
Frontal bossing, Palmar pits, Hydrocephalus, Calcification of falx cerebri, Macrocephaly |
OMIM:620343 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Conductive hearing impairment, Loss of ambulation, Thickened helices, Thick nasal al... |
ORPHA:581 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Posteriorly rotated ears, Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, High p... |
OMIM:618590 |
Noonan Syndrome 14 |
|
Posteriorly rotated ears, Prominent nasal bridge, High, narrow palate, Cryptorchidism, Lateral ve... |
OMIM:619745 |
Nablus Mask-Like Facial Syndrome |
|
Telecanthus, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Highly ar... |
OMIM:608156 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Cervical cord compression, Thick nasal alae, Hypoplasti... |
ORPHA:79345 |
Neurooculorenal Syndrome |
|
Iris atrophy, Ectopic posterior pituitary, Intestinal malrotation, Short hallux, Micrognathia, Aq... |
OMIM:620305 |
Achondrogenesis |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck |
ORPHA:932 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodac... |
ORPHA:2462 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Contracture of the ... |
OMIM:300166 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Malabsorption, Joint stiffness, Hydrocephalus, Split hand, Optic atrophy, Abnorm... |
ORPHA:579 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Spina bifida occulta, Short neck |
OMIM:611929 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro... |
ORPHA:3472 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... |
ORPHA:763 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella |
OMIM:617752 |
Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Frontal bossing, Syndactyly, Patent ductus arteriosus, Small hand, Clinoda... |
OMIM:616489 |
Osteogenesis Imperfecta, Type Xvii |
|
Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Syringomyelia, Vertebral compression ... |
OMIM:616507 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Long palm |
OMIM:300676 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra... |
OMIM:314390 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Short nose, Wide anterior fontanel, Depressed nasal bridge |
ORPHA:2143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Macroglossia, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Anteverted nares, Depressed nasal bridg... |
ORPHA:175 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Odontochondrodysplasia |
|
Death in infancy, Depressed nasal bridge, Patent ductus arteriosus, Platyspondyly, Scoliosis, Sho... |
ORPHA:166272 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology |
ORPHA:90653 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progressive intervertebral... |
ORPHA:1716 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Decreased skull ossification, Iris coloboma, Partial absence of toe, Sh... |
ORPHA:955 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility, Nasal polyposis, Absent outer dynein arms, Anosmia... |
OMIM:244400 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Miller-Dieker Syndrome |
|
Sacral dimple, Short nose, Anteverted nares |
ORPHA:531 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Patent ductus arteriosus, Coarctation of a... |
ORPHA:284169 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Short distal phalanx of finger, Ptosis |
OMIM:614261 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, High, narrow palate, Hydrocephalus, Abnormality of neuronal migration, Renal tubular ... |
ORPHA:228308 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Hip dislocation, Upslanted palpebral fis... |
ORPHA:481152 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Ir... |
ORPHA:251014 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Abnormal calvaria morphology, Holoprosencephaly, Posterior pituita... |
ORPHA:563612 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Sensorineural hearing impairment, Lateral ventri... |
ORPHA:488627 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cryptorchidism, Patent ductus arteriosus, Gray matter heterotopia, Neonat... |
OMIM:620024 |
Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum |
OMIM:231950 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydr... |
ORPHA:1340 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Micropenis, Retinal atrophy, Ataxia, Retinal pigment epith... |
OMIM:216400 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Abnormal pelvic girdle bone morphology, A... |
ORPHA:1834 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck |
ORPHA:93298 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida |
OMIM:162200 |
H Syndrome |
|
Hearing impairment, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Azoospermia, Hypogonadis... |
ORPHA:168569 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Small... |
ORPHA:2714 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Retinal dysplasia, Absent me... |
OMIM:601374 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Telecanthus |
OMIM:300484 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal ... |
ORPHA:163979 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... |
ORPHA:25 |
Kagami-Ogata Syndrome |
|
Blepharophimosis, Coxa valga, Long fingers, Micrognathia, Hypoplasia of the maxilla, Limb undergr... |
OMIM:608149 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger syndactyly, Short p... |
OMIM:224690 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Optic atrophy, Abnormality of neuronal mig... |
ORPHA:2518 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Frontal bossing, Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal ga... |
OMIM:620330 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of th... |
ORPHA:2306 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck |
ORPHA:93299 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Micrognathia, Achilles tendon contracture, Osteoporosis, Norma... |
OMIM:620351 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Short nose, Scoliosis |
OMIM:615042 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Abnormal cerebrospinal fluid morphology, Cerebral atrophy, Abnormal cerebral ... |
ORPHA:314404 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Agitation, Dysphagia, Pachygyria, Agyria |
ORPHA:2148 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Arachnodactyly, Proximal placement of thumb, Absent lower eyelashes... |
OMIM:620370 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:616910 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Microcephaly, Porencephalic cyst, Chronic CSF lymphocytosis, Multifocal c... |
ORPHA:51 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Anteverted nares |
OMIM:618506 |
Man1B1-Cdg |
|
Broad-based gait, Wide nose, Periventricular heterotopia, Prominent nose, Wide nasal bridge, Low-... |
ORPHA:397941 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Global ... |
ORPHA:275872 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Meningocele, Pseudopapilledema |
ORPHA:3456 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Joint stiffness, Metatarsus adductus, Hydrocephalus, Flexion contracture, Limita... |
OMIM:253220 |
Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, ... |
OMIM:115150 |
Hartsfield Syndrome |
|
Syndactyly, Epicanthus, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Hypoplas... |
OMIM:615465 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplasia of the calcaneus... |
OMIM:215140 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma |
OMIM:613576 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Metrorrhagia, Epistax... |
ORPHA:464329 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Micrognathia, Brachycephaly, Sh... |
ORPHA:264200 |
Glutaric Acidemia I |
|
Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:261540 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Micrognathia, Metatar... |
OMIM:121050 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Renal tubular epithelial necrosis, ... |
ORPHA:157 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Syringomyelia, Short nose, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613735 |
Bickerstaff Brainstem Encephalitis |
|
CSF pleocytosis, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation |
OMIM:600721 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Phocomelia, Wrist... |
OMIM:268300 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Microgna... |
ORPHA:221120 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Abnormal metacarpal... |
ORPHA:2095 |
Aspergillosis |
|
Nasal congestion, Abnormality of the vertebral column, Stroke, Intracranial hemorrhage |
ORPHA:1163 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
Femoral-Facial Syndrome |
|
Cryptorchidism, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, Short nose,... |
ORPHA:1988 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Khan-Khan-Katsanis Syndrome |
|
Patent ductus arteriosus after premature birth, Micrognathia, Sensorineural hearing impairment, P... |
OMIM:618460 |
Hellp Syndrome |
|
Back pain, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Internal hemorrhage |
ORPHA:244242 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Esophage... |
OMIM:227646 |
Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowi... |
ORPHA:672 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Short neck, Cryptorchidism, Short nose, Ventri... |
ORPHA:2083 |
Whipple Disease |
|
Ataxia, Anorexia, Malabsorption, Hydrocephalus, Erectile dysfunction, Polydipsia |
ORPHA:3452 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, Microcephaly, Dolichocephaly, Hydrocephalus, Genu valgum, Plagio... |
OMIM:619475 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Convex nasa... |
OMIM:619321 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Raynaud phenomenon, Kyphosis, Vasculitis, Hypertension, Pl... |
ORPHA:1855 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Partial agenesis of the corpus c... |
OMIM:222448 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Abnormal vertebr... |
OMIM:192350 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Clinoda... |
OMIM:618087 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Spina bifida occulta |
ORPHA:500095 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Pulmonary artery a... |
ORPHA:401935 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hypoplasia of the maxill... |
ORPHA:1798 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Communicating hydrocephalus, Optic disc pallor, Cataract, Corneal opacity,... |
ORPHA:309282 |
Arachnoiditis |
|
Hydrocephalus, Tinnitus, Hearing impairment |
ORPHA:137817 |
Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Limitation of ... |
ORPHA:93473 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma |
OMIM:619908 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar... |
OMIM:617260 |
Thoracoabdominal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Bulbous nose, Wide nasal b... |
OMIM:615803 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Aplasia/Hypoplasia involvi... |
ORPHA:1521 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Agenesis of corpus callosum, Retin... |
ORPHA:42775 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Abnormal optic nerve morpholo... |
ORPHA:453504 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla,... |
OMIM:129400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Abnormal optic nerve morpholo... |
ORPHA:352665 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Partial agenesis of the corpus callosum, Wide nasal bridge, Thoracic kyphosis, Scolio... |
OMIM:620250 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge, Cryptorchid... |
OMIM:618505 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Paten... |
OMIM:618188 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Telecanthus, Death in infancy, Proximal placement of ... |
OMIM:615789 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Anteriorly placed anus, ... |
OMIM:612289 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Split foot, Camptodactyly, Joint co... |
OMIM:603543 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Synophrys, Increas... |
OMIM:609460 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Syndactyly, Scapular winging, Short metacarpal, Single transverse palmar c... |
OMIM:150230 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, ... |
ORPHA:1465 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Ulnar deviation of the hand, Hypoplasia of the maxilla, Malar flattening, Downslante... |
OMIM:122880 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... |
OMIM:609128 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Malar flattening, Optic disc coloboma, Micrognathia |
OMIM:241310 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Pulmona... |
ORPHA:391372 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Microcephaly, Long fingers, Patent ductus arteriosus, Plagiocephaly, Talipes equinovaru... |
OMIM:613355 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Short neck, Platyspondyly, Stillbirth, Umbilical hernia, Short nose, Narr... |
OMIM:269250 |
Congenital Fibrosis Of Extraocular Muscles |
|
Plagiocephaly, Polymicrogyria, Optic nerve hypoplasia, Hand oligodactyly |
ORPHA:45358 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Scoliosis |
OMIM:256850 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Agenesis of ... |
OMIM:613001 |
Slc35A2-Cdg |
|
Precocious puberty, Inability to walk, Sensorineural hearing impairment, Lateral ventricle dilata... |
ORPHA:356961 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Ventriculomegaly |
ORPHA:228384 |
Kabuki Syndrome 1 |
|
Anal stenosis, Posteriorly rotated ears, Intestinal malrotation, Premature thelarche, Malabsorpti... |
OMIM:147920 |
Menkes Disease |
|
Intracranial hemorrhage, Death in childhood |
OMIM:309400 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c... |
ORPHA:959 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ataxia, Myelopathy, Inability to walk, Dysmetria, Gait disturbance, Difficulty wal... |
ORPHA:139396 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose, Agenesis of corpus callosum |
ORPHA:261144 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Single transverse palmar crease, Micrognathia, Patent du... |
OMIM:620185 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Short nose, Scoliosis |
OMIM:617183 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Frontal bossing, Syndactyly, Micrognathia, Short 5th finger, Polydactyly, ... |
ORPHA:397590 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Scoliosis, Short nose, Ven... |
OMIM:619179 |
Fetal Akinesia Deformation Sequence 1 |
|
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft... |
OMIM:208150 |
Schizophrenia 1 |
|
Frontal bossing, Flat occiput, Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
Trigonocephaly 1 |
|
Short nose, Lumbar hemivertebrae, Wide nasal bridge |
OMIM:190440 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vertebral bodies, Short nose |
ORPHA:2831 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Posteriorly rotated ears, Micrognathia, Epispadias, Hydro... |
ORPHA:2461 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Meningocele, Tracheoesoph... |
ORPHA:2879 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arterioven... |
ORPHA:109 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Abnormal repetitive mannerisms, Oppos... |
ORPHA:580 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:613604 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Hypoplasia of the maxilla, Upper eyelid edema, Clinodactyly, Aplasia/Hypopla... |
ORPHA:293939 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... |
OMIM:607485 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Coloboma, High palate, Clinodactyly of the 5th finger, Agenesis of corpus ... |
OMIM:200990 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Semilobar holoprosenc... |
OMIM:142946 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, Syn... |
OMIM:265000 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Cond... |
OMIM:609053 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Transposition of the great arteries, Scoliosis, Short nose, Tetralogy of ... |
ORPHA:1913 |
Humero-Radial Synostosis |
|
Meningocele, Chorioretinal coloboma |
ORPHA:3265 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Anteverted nares, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect, ... |
ORPHA:96147 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Ventriculomegaly |
ORPHA:85277 |
Knobloch Syndrome 2 |
|
Encephalocele |
OMIM:618458 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Telecanthus, Sparse eyelashes, Down-sloping shoulders, Tapered finger, Spar... |
OMIM:611174 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Anteverted nares, Micrognathia, Cryptorchidism, Chorioretinal coloboma, Periven... |
OMIM:619135 |
Medulloblastoma |
|
Back pain, Cerebellar hemorrhage, Hydrocephalus, Spinal cord tumor |
ORPHA:616 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:255138 |
Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal form of the vertebral bodies, Coronal cleft ve... |
ORPHA:1458 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Brac... |
OMIM:604757 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Short neck, Wide nasal bridge, Hypertrophic cardiomyopathy, Platyspondyly, Shor... |
OMIM:616897 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Tarp Syndrome |
|
Anteverted nares, Subdural hemorrhage, Wide nasal bridge, Neonatal death, Tetralogy of Fallot |
OMIM:311900 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Clinodactyly of the 5th toe, Persistence of primary teeth, Micrognat... |
ORPHA:37553 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Holoprosencephaly, Cl... |
ORPHA:1587 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Ptosis, Abnormal morphology of... |
ORPHA:570 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Tibial... |
OMIM:231070 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi... |
OMIM:133540 |
3Mc Syndrome 2 |
|
Ptosis, Prominence of the premaxilla, Highly arched eyebrow, Limited elbow movement, Hip dislocat... |
OMIM:265050 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis atrophy |
ORPHA:1170 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Dandy-Walker malform... |
OMIM:217090 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Death in infancy, Micrognathia, Adactyly, Split ha... |
ORPHA:989 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cerebral calcification, Micrognathia, Persistence of primary teeth, Basal ganglia calcification, ... |
ORPHA:2785 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,... |
OMIM:612301 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Retrognathia, ... |
OMIM:601812 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Hydrocephalus, Plagiocephaly, Narrow iliac wing, Midface retrusion |
ORPHA:3042 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Brachydactyly, ... |
OMIM:209900 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Nasal polyposis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella |
OMIM:620197 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Syndactyly, Molar tooth sign on MRI |
OMIM:617767 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hy... |
OMIM:614800 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Sensorineura... |
ORPHA:2322 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Alexander Disease |
|
Ataxia, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Self-injurious behavior, Gait dis... |
ORPHA:58 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Short nose |
OMIM:618828 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Micrognathia, Hydro... |
OMIM:273395 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Cleft palate, Pigmentary reti... |
OMIM:614230 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, 2-4 finger synd... |
OMIM:107480 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, ... |
OMIM:258040 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Ventriculomegaly |
OMIM:100300 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Dysphagia |
OMIM:617008 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Blepharophimosis, Syndactyly, Epicanthus, Camptodactyly |
OMIM:616006 |
Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Macular atrophy, Micrognathia, Sensorineural hearing impairmen... |
OMIM:242840 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Bulbous nose, Tracheoeso... |
ORPHA:1780 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Recurrent sinusitis, Nasal congestion |
OMIM:300991 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Flexion contracture, Hip di... |
ORPHA:93924 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Simple ear, Hypospadia... |
OMIM:619325 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Pancreatic fibrosis, Hamartoma of tongue, Intestinal malrotation, Microglossia... |
OMIM:263520 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge, Abnormal vertebral morphology |
ORPHA:99688 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ab... |
ORPHA:906 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Frontal bossing, Mandibular prognathia, Cerebellar atrophy, Arachnod... |
OMIM:617011 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Chronic rhinitis, Absent inner and outer dynein arms |
OMIM:618801 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Anteverted nares, Supernumerary nipple, Narrow nasal tip, Cryptorchidism, Wide nasal... |
ORPHA:477993 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Prominent nasal bridge, Patent ductus arteriosus, Bulbous nose, Hypertension, Short ... |
OMIM:613870 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... |
OMIM:614874 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Superficial Siderosis |
|
Back pain, Enlarged sylvian cistern, Abnormal bleeding, Partial anosmia, Subarachnoid hemorrhage,... |
ORPHA:247245 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Scoliosis, Short nose, Bruising susceptibility, Ventriculomegaly |
ORPHA:561 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Proximal placement of thumb, Holoprosencephaly, Advanced eruption of ... |
ORPHA:818 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Ectropion, Sparse eyelashes, Micro... |
OMIM:209885 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Abnormal form of the vertebral bodie... |
ORPHA:819 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Patent ductus ar... |
OMIM:619869 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Intervertebral space narrowing, Wide nasal bridge |
OMIM:614078 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Agenesis of corpus callosum, Iris coloboma, Verteb... |
OMIM:194190 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior, Long nose,... |
ORPHA:85327 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cerebral hemorrhage, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Scoliosis |
OMIM:616682 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b... |
ORPHA:3440 |
Lathosterolosis |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Meningocele, High palate, Shor... |
ORPHA:46059 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn... |
OMIM:206900 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Short nose, Scoliosis |
ORPHA:496790 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle |
ORPHA:251347 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Narrow nose, Cryptorchidism, Bu... |
OMIM:618454 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Kyphoscoliosis, Short neck, Scoliosis, Short nose |
ORPHA:391408 |
Marshall Syndrome |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Hypoplastic frontal si... |
ORPHA:560 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Epicanthus, Micromelia... |
OMIM:614091 |
Toriello-Carey Syndrome |
|
Short neck, Cryptorchidism, Partial agenesis of the corpus callosum, Wide anterior fontanel, Pate... |
ORPHA:3338 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Gray matter heterotopia, Neonatal death,... |
OMIM:614887 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Arima Syndrome |
|
Dilated fourth ventricle, Retinal dystrophy, Ataxia, Optic atrophy, Esophageal varix, Gray matter... |
OMIM:243910 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Short nose, Convex ... |
ORPHA:3121 |
Myhre Syndrome |
|
Mandibular prognathia, Ptosis, Brachydactyly, Craniofacial hyperostosis, Blepharophimosis, Hypopl... |
ORPHA:2588 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydro... |
ORPHA:667 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Hydrocephalus, Optic atrophy, Gait disturbance, Ventriculomegaly |
ORPHA:395 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Kyphosis, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Scol... |
OMIM:617061 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short nose, Depressed nasal bridge, Short neck |
OMIM:608776 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Short neck, Wide anterior fontanel, Platyspondyly, Stil... |
OMIM:228520 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Arterial rupture, Platyspondyly, Dilatation of the cerebral artery, Scoliosis, ... |
OMIM:612394 |
Stormorken Syndrome |
|
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like episode, Bruis... |
OMIM:185070 |
Fraser Syndrome |
|
Encephalocele, Umbilical hernia, Myelomeningocele, Vertebral segmentation defect |
ORPHA:2052 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Recurrent sinusitis, Telangiectasia |
ORPHA:420741 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Recurrent fractures, Avascular necrosis of the capita... |
OMIM:619377 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl... |
OMIM:263750 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose |
OMIM:249620 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Faundes-Banka Syndrome |
|
Frontal bossing, Micrognathia, Plagiocephaly, Primary microcephaly, Flexion contracture of toe |
OMIM:619376 |
Prader-Willi Syndrome |
|
Short palm, Syndactyly, Decreased response to growth hormone stimulation test, Carious teeth, Acr... |
OMIM:176270 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Chorioretinal atrophy, Lateral ventricle dilatation, Micropenis, Self-mutilation |
OMIM:619487 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal gangli... |
ORPHA:2152 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Decreased fumarate hydratase activity, Microcephaly, Chor... |
OMIM:606812 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Anteverted nares, Decreased fertility, Short nose |
OMIM:234050 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Subdural h... |
ORPHA:79282 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Branchial anomaly, Chiari... |
OMIM:164210 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, Short tibia, Finger sy... |
ORPHA:2751 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Kleefstra Syndrome |
|
Anteverted nares, Cryptorchidism, Pulmonary artery stenosis, Coarctation of aorta, Scoliosis, Arr... |
ORPHA:261494 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Short neck, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery st... |
ORPHA:251071 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614744 |
Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Concave nasal ridge, ... |
OMIM:251450 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventriculomegaly |
ORPHA:171680 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Spontaneous, recurrent epistaxis, Hydrocephalus, Sensorineural hea... |
ORPHA:2072 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Epicanthus, Overlapping toe, Highly arched eyebrow, Micr... |
OMIM:213980 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Chronic rhinitis, Recurrent sinusitis |
OMIM:612444 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Scoliosis, Facial telangiectasia, Short nose, Ventriculomegaly |
OMIM:615851 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Short palm |
ORPHA:79094 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Hydrocephalus, Flexion contracture, Optic a... |
ORPHA:505248 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Hydrocephalus, Optic atrophy, Retinopathy, Hearing impairment |
ORPHA:220295 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosu... |
OMIM:300868 |
Dextrocardia |
|
Intestinal malrotation, Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypopl... |
ORPHA:1666 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:614732 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathi... |
OMIM:610168 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hyperactivity, Depressed nasal bridge, Micrognathia, Cryptorch... |
ORPHA:3379 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar malformation, Abnormal cerebel... |
ORPHA:357058 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Subcutaneous hemorrhage, Cervical kyphosis, Kyphoscoliosis, Cryptorchidism, Pr... |
ORPHA:2953 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:322 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Posteriorly rotated ears, Depressed nasal bridge, Wide nasal bridge, Lateral ventric... |
OMIM:619479 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno... |
OMIM:614188 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Abnormality of neu... |
ORPHA:647 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Convex nasal ridge |
ORPHA:2145 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Prominent nasal bridge, Fetal intraventricular hemorrhage |
OMIM:618480 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Long nose, Hypopla... |
ORPHA:508533 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Scoliosis |
ORPHA:544503 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... |
ORPHA:1772 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Narrow nasal tip, P... |
ORPHA:464306 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage, Recurrent sinusitis |
OMIM:243700 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Aplasia/Hypoplasia of the patella, Micrognathia, Hypoplasia of the maxilla, Pa... |
OMIM:613803 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Gr... |
OMIM:608624 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Elongat... |
OMIM:610688 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow palate, Pro... |
OMIM:613406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad... |
OMIM:309590 |
Down Syndrome |
|
Depressed nasal bridge, Short neck, Depressed nasal ridge, Decreased fertility, Umbilical hernia,... |
ORPHA:870 |
Myhre Syndrome |
|
Mandibular prognathia, Thick eyebrow, Overlapping toe, Blepharophimosis, Hypoplasia of the maxill... |
OMIM:139210 |
Faciocardiorenal Syndrome |
|
Plagiocephaly |
ORPHA:1973 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the... |
ORPHA:722 |
Sclerosteosis 1 |
|
Mandibular prognathia, Frontal bossing, Syndactyly, 2-3 finger syndactyly, Dental malocclusion, F... |
OMIM:269500 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Simplified gyral pattern, Protruding ear, Bifid uvula, Absent gallblad... |
ORPHA:500150 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short nose, Anteverted nares |
OMIM:619356 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Spinocerebellar atrophy, Dorsal column degeneration, Spinocerebellar tr... |
OMIM:164400 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Wide anterior fontanel, Scoliosis, Short nose, Dandy-Walker malformation |
OMIM:219200 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Gray matter heterotopia, Low-set ears |
OMIM:618797 |
Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Spinocerebellar tract degeneration, Olivopontocerebellar atrophy, Dilated fou... |
OMIM:183090 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Tetrasomy 12P |
|
Short nose, Anteverted nares, Short neck |
ORPHA:884 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Petechiae, Neonatal death, Short nose, Ventriculomegaly... |
OMIM:608013 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Mandibular prognathia, Prominent ... |
ORPHA:457359 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Microcephaly, Perisylvian polymicrogyria, Flared metaphysis... |
OMIM:610442 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares, Platyspondyly |
OMIM:614524 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Choanal atresia, Protruding tongue, Micrognathia, Perisylvian predom... |
ORPHA:98889 |
Zaki Syndrome |
|
Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Scoliosis |
OMIM:619648 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
Non-Distal Duplication 13Q |
|
Cryptorchidism, Short nose |
ORPHA:1702 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Warburg Micro Syndrome 3 |
|
Short nose, Kyphoscoliosis, Decreased testicular size, Ventriculomegaly |
OMIM:614222 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Umbilical hernia, Thick eyebrow |
ORPHA:96129 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Underdeveloped antitragus, Dep... |
OMIM:181270 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Calvarial skull defect, Brachydactyly |
OMIM:616589 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Mitral regurgitation |
OMIM:615539 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, M... |
ORPHA:340 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn... |
ORPHA:636 |
Gaucher Disease |
|
Osteopenia, Ventriculomegaly, Increased bone mineral density, Corneal opacity, Recurrent fracture... |
ORPHA:355 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormal retinal morphology, Eosinophilia, CSF pleocytosis, Hydrocepha... |
ORPHA:228123 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Depressed nasal bridge, Unilateral cryptorchidism, Flared nostrils, Interrupted in... |
OMIM:206920 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly, Micrognathia |
OMIM:100700 |
Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Supernume... |
OMIM:211380 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Autosomal Dominant Omodysplasia |
|
Cryptorchidism, Short nose, Depressed nasal bridge |
ORPHA:93328 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage, Spinal cord lesion, Scoliosis |
ORPHA:221061 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Short nose |
ORPHA:2547 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Micrognathia, Hypoplasia of the pons, Patent ductus arteriosus, Optic atrophy, Furrow... |
OMIM:616975 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hydrocele testis, Aortic root aneury... |
OMIM:145420 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Syndactyly, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Mesomel... |
OMIM:616894 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Webbed penis, Micropen... |
ORPHA:261537 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Kyphosis, Intracranial hemorrhage, Hypertension,... |
ORPHA:394 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Cryptorchidism, Kyphosis, Coarctation of aorta, Aortic root aneurysm, Scoliosis, Short... |
OMIM:617602 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Anteriorly placed anus, High palate, Choanal stenosis, Micropenis, Streak ovary, Hy... |
ORPHA:798 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Depressed nasal bridge, Inability to walk, Gray matter heterotopia, Dy... |
ORPHA:26791 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Telecanthus |
ORPHA:782 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Frontal bossing, Syndactyly, Narrow joint spaces of the elbow, Decreased r... |
ORPHA:96182 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Toe syndactyly, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Hypoplasia of the ... |
OMIM:129900 |
20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Abnor... |
ORPHA:363659 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Congenital bilateral hip dislocation, Choroidal neovascularization, Syndactyly |
ORPHA:404451 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Short nose, Dilation of Virchow-Robin spaces, Depressed nasal bridge |
OMIM:605309 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Scoliosis, Restrictive cardio... |
OMIM:615398 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose |
ORPHA:1295 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Uplifted earlobe, Cleft hard palate, Webbed penis, Micropen... |
ORPHA:261552 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis |
OMIM:614935 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Kyphosis, Scoliosis, Short nose, Dandy-Walker malformation |
OMIM:617988 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Cryptococcosis |
|
Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatitis |
ORPHA:1546 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:93329 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Narrow nasal ridge, Raynaud phenomenon, Carotid a... |
ORPHA:740 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Highly arched eyebrow, Uppe... |
ORPHA:1299 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration |
OMIM:109150 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Agenesi... |
ORPHA:3455 |
16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Arrhythm... |
ORPHA:261211 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec... |
OMIM:200600 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short neck, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Short nose, Ventr... |
ORPHA:1394 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Slender long bone, Patellar aplasia, Micrognathia |
OMIM:613804 |
Periventricular Nodular Heterotopia 9 |
|
Broad-based gait, Posteriorly rotated ears, Gray matter heterotopia, Microtia, Squared superior p... |
OMIM:618918 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Umbilica... |
OMIM:616331 |
Prolidase Deficiency |
|
Depressed nasal bridge, Diffuse telangiectasia, Concave nasal ridge, Short nose, Petechiae |
OMIM:170100 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Patent ductus arteriosus, Periventricular heterotopia |
ORPHA:98892 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly |
ORPHA:137634 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Irregular menstruation, Testicular adrenal rest tumor |
ORPHA:90795 |
Micro Syndrome |
|
Anteverted nares, Cryptorchidism, Kyphosis, Wide nasal bridge, Scoliosis, Short nose |
ORPHA:2510 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Decreased sku... |
OMIM:601163 |
Tukel Syndrome |
|
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... |
OMIM:609428 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Abnormal dental enamel mo... |
ORPHA:2363 |
Al-Raqad Syndrome |
|
Short nose |
OMIM:616459 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Ogden Syndrome |
|
Short neck, Ventricular tachycardia, Supraventricular tachycardia, Depressed nasal bridge, Crypto... |
OMIM:300855 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Lumbosacral meningocele, Myelomening... |
OMIM:607330 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae... |
OMIM:301040 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Alg11-Cdg |
|
Gray matter heterotopia, Retrognathia, Ataxia, Hearing impairment |
ORPHA:280071 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee... |
OMIM:223370 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Absent eyelashes, Hypoplasia... |
ORPHA:920 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Short columella, Scoliosis, S... |
OMIM:156200 |
Peho Syndrome |
|
Short nose |
OMIM:260565 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration |
ORPHA:276241 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Hypoplastic sacrum, Depressed nasal bridge, Anteverted nares, Thoracic hemivert... |
OMIM:268310 |
Kbg Syndrome |
|
Syndactyly, Telecanthus, Single transverse palmar crease, Synophrys, Cutaneous syndactyly, Downsl... |
OMIM:148050 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Short nose, Depressed nasal ridge |
ORPHA:1912 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Short nose, Low h... |
OMIM:615866 |
C Syndrome |
|
Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Scoliosis, Short nose |
OMIM:211750 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Short nose |
OMIM:613026 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sensorineural hearing impairment, Rod-cone dystrophy, Ataxia |
OMIM:616084 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... |
ORPHA:805 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Preaxial polydactyly, Radial deviation of the 3rd finger, Conical incisor, Conjunctivitis, Tripha... |
OMIM:149730 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Small earlobe, Agenesis of corpus callosum, Dandy-Walker ... |
OMIM:264090 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Lumbar hyperlordosis, Prominent nasal bridge, Convex nasal ridge, Short neck, Cryptorc... |
ORPHA:251028 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Trisomy 12P |
|
Short nose, Wide nasal bridge, Short neck |
ORPHA:1699 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Temporomandibular... |
ORPHA:2388 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Hydrocephalus |
OMIM:277400 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchi... |
ORPHA:1507 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... |
ORPHA:3342 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo... |
OMIM:272950 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callosum, Exa... |
OMIM:312870 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Periventricular heterotopia, Chorioretinal lacunae, Retinal pigment epi... |
OMIM:618733 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Pyloric stenosis, ... |
OMIM:218040 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Micrognathia, Underdeveloped nasal alae, Lateral ventricle dilatation, High ... |
OMIM:614098 |
Carey-Fineman-Ziter Syndrome |
|
Ventriculomegaly, Anteverted nares, Scoliosis, Short nose, Hypertensive crisis |
ORPHA:1358 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Vertebral fusion, Death in infancy, Bundle branch block, Anteverted nares,... |
ORPHA:373 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Abnormal toe morphology, Abnormal finger morphology, Cranial asymmet... |
OMIM:163200 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Abnorm... |
ORPHA:2710 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms, Hyperactivit... |
ORPHA:353281 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short neck, Bulbous nose, Wide nasal bridge, Scoliosis, Short nose |
OMIM:618571 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Dental malocclusion, Broad palm... |
OMIM:227330 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Depressed nasal bridge, Thoracolumbar scoliosis, Kyphoscoliosis, Sho... |
ORPHA:457395 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Opacification of the corneal stroma |
OMIM:231005 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Hypopla... |
OMIM:604292 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, ... |
ORPHA:90324 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge |
OMIM:617802 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Abnormality of neuronal migration, Atresia of the external auditory canal, Ho... |
ORPHA:3186 |
Bloom Syndrome |
|
Syndactyly, Chromosome breakage, Abnormality of chromosome stability, Microcephaly, Agenesis of m... |
OMIM:210900 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Short nose |
ORPHA:1790 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Subretinal pigment epithelium hemorrhage, Prominent veins on t... |
ORPHA:357074 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge, Scoliosis, Short nose, Dandy-Walker malformation |
OMIM:614207 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Wide nasal bridge, Lateral ventricle dilatation, High palate, Vesicovagina... |
OMIM:300896 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Depressed nasal bridge, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Short nose |
OMIM:616723 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Posteriorly placed anus, Myelom... |
OMIM:306955 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly |
OMIM:605231 |
Liver Disease, Severe Congenital |
|
Macrocephaly at birth, Micrognathia, Patent ductus arteriosus, Plagiocephaly, Umbilical hernia |
OMIM:619991 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Syringomyelia, Anteverted nares, Short nose |
ORPHA:357001 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Anteverted nares, Ovoid vertebral bodies, Short neck, Pulmonary arterial medial... |
OMIM:601559 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Depressed na... |
OMIM:616835 |
Fetal Alcohol Syndrome |
|
Short nose, Anteverted nares, Vertebral segmentation defect |
ORPHA:1915 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Short nose, Depressed nasal bridge, Abnormally ossified vertebrae |
ORPHA:2746 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the odontoid process, Hypopla... |
OMIM:258480 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:105830 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Hypoplasia of the ma... |
ORPHA:2554 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microcephaly |
ORPHA:1942 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:615108 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Olivopontocerebellar ... |
OMIM:212065 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Short nose, Prominent superficial veins, Narrow nasal ridge |
OMIM:608612 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Bulbous nose, Pla... |
OMIM:271510 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Short nose, Hypogonadism, Telangiectasia |
OMIM:601675 |
Johanson-Blizzard Syndrome |
|
Abnormal nostril morphology, Short nose, Death in infancy, Underdeveloped nasal alae |
ORPHA:2315 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Coarctation of aorta, Short nos... |
OMIM:244450 |
Deeah Syndrome |
|
Death in infancy, Cervical hemivertebrae, Decreased heart rate variability, Short neck, Cryptorch... |
OMIM:619004 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, Scoliosis |
ORPHA:329178 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Prominent scalp veins, Congenital kyphoscoliosis, Anteverted nares, ... |
ORPHA:536471 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:615109 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Short neck, Congestive heart failure, Short nose |
OMIM:608779 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Micrognathia, Esophageal neoplasm, Oligozoospe... |
ORPHA:125 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose |
OMIM:613038 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal t... |
ORPHA:97360 |
Cadds |
|
Short nose, Ventriculomegaly |
ORPHA:369942 |
Otopalatodigital Syndrome, Type I |
|
Short nose, Wide nasal bridge, Scoliosis |
OMIM:311300 |
Hypohidrotic Ectodermal Dysplasia |
|
Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Sinusitis, Aplasia/Hypoplasia of the eyebrow |
ORPHA:238468 |
Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Anomalous pulmonary venous return, Ce... |
OMIM:616368 |
Monosomy 9P |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Cryptorchidism, Abnormalit... |
ORPHA:261112 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hydrocephalus, Cataract |
OMIM:261740 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Telangiectasia, Recurrent sinusitis, Short nose |
OMIM:604173 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Patent ductus arteriosus, Six lumbar vertebrae, Pulmonary arterial hypert... |
ORPHA:65286 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Oli... |
ORPHA:85450 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Hypoplasia of the maxilla, Carious teet... |
ORPHA:1775 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Micrognathia, Abnormal tibia morphology, Hydrocephalus, Bone cyst, Genu valgum, Large hands, High... |
ORPHA:363700 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Flat occiput, Congenital hip dislocation, Single transverse palmar ... |
OMIM:216340 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Coarctation of aorta, Scolio... |
OMIM:601358 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey... |
ORPHA:69085 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Ventriculomegaly |
OMIM:252160 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micrognathia, High palate, Micropenis, Paroxysmal bursts of laughter, Hyperactivit... |
OMIM:309580 |
Alg9-Cdg |
|
Tricuspid regurgitation, Depressed nasal bridge, Underdeveloped nasal alae, Short neck, Wide ante... |
ORPHA:79328 |
Singleton-Merten Syndrome 1 |
|
Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth... |
OMIM:182250 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... |
OMIM:613795 |
Stickler Syndrome |
|
Epicanthus, Telecanthus, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ... |
ORPHA:828 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Anteverted nares, Abnormal dental enamel... |
ORPHA:744 |
Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:158350 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip |
OMIM:618529 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Marfan Syndrome |
|
Retinal detachment, Micrognathia, High, narrow palate, Meningocele, Cleft palate, Attention defic... |
ORPHA:558 |
Distal Deletion 9P |
|
Short nose, Wide nasal bridge, Short neck |
ORPHA:1642 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Anteverted nares, Short neck, Patent ductus arteriosus, Hyd... |
ORPHA:280633 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Antley-Bixler Syndrome |
|
Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, Clinodactyly,... |
ORPHA:1708 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Overlapping toe, Blepharophimosis, Hypoplasia of the maxilla, H... |
OMIM:617402 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose, Dandy-Walker malformation |
ORPHA:2719 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, H... |
ORPHA:3107 |
Warburg Micro Syndrome 2 |
|
Cryptorchidism, Short nose, Prominent nasal bridge |
OMIM:614225 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Aqueductal ste... |
OMIM:619534 |
Lymphangioleiomyomatosis |
|
Retinal hamartoma, Hydrocephalus, Abnormal morphology of female internal genitalia, Optic atrophy |
ORPHA:538 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:314655 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Depressed nasal bridge, Bulbous nose, Coarctation of aorta, Short nose |
OMIM:614114 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Zttk Syndrome |
|
Aortic regurgitation, Depressed nasal bridge, Dysplastic corpus callosum, Kyphosis, Patent ductus... |
OMIM:617140 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Arrhythmia, Short nose, Vertebr... |
OMIM:164200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Hydrocele testis, Short nose |
OMIM:614080 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Polymicrogyria, High palate, Syndactyly |
OMIM:614520 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, B... |
OMIM:613458 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Depressed nasal bridge, Arterial tortuosity, Pat... |
OMIM:619472 |
Distal Duplication 5Q |
|
Cryptorchidism, Short nose, Prominent nasal bridge |
ORPHA:96097 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Ecchymosis, Short columella, Mitra... |
OMIM:601776 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose |
OMIM:266810 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Micrognathia, Narrow palpebral fissure, Downslanted... |
OMIM:614437 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Short nose, Wide nasal bridge, Kyphoscoliosis |
OMIM:618005 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Short nose, Ventriculomegaly |
OMIM:617527 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Corpus callosum atrophy |
OMIM:601162 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... |
OMIM:232300 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Short nose, Ventriculomegaly |
ORPHA:521426 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Pulmon... |
ORPHA:2282 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short nose, Anteverted nares, Choanal atresia |
OMIM:610536 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Short neck |
ORPHA:50810 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Anteverted nares, Block vertebrae, Short neck, Broad nasal tip, Hyperlordosis, ... |
OMIM:272460 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous return, Scoliosis, Short no... |
OMIM:301044 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Spinal rigidity, Wide nasal bridge, Scoliosis, Short nose |
OMIM:620369 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Short neck, Spinal cord compression, Wide anterior fontanel, Hypoplasia o... |
OMIM:271665 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, Ta... |
OMIM:305100 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Death in childhood, Short nose, Convex nasal ridge |
OMIM:300661 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Epistaxis |
ORPHA:137667 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short umbilical cord, Dysphagia |
OMIM:618367 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Platyspondyly, Short nose |
OMIM:154780 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Scoliosis, Stroke-like episode |
ORPHA:86309 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Agenesis of corpus callosum, Short nose |
ORPHA:3339 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Scoliosis |
OMIM:601353 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Ovoid vertebral bodies, Tricuspid stenosis, Mitral regurgitation, Aortic valve s... |
OMIM:614185 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Sacral dimple, Prominent nasal bridge, Underdeveloped nasal alae, Broad nas... |
ORPHA:268261 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Short nose, Scoliosis |
ORPHA:476126 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Acute Transverse Myelitis |
|
Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism |
ORPHA:139417 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Tethered cord, Anteverted nares, Depressed nasal bridge, Underdeveloped nasa... |
OMIM:618332 |
Ctcf-Related Neurodevelopmental Disorder |
|
Sacral dimple, Anteverted nares, Broad nasal tip, Cryptorchidism, Patent ductus arteriosus, Coarc... |
ORPHA:363611 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Hypertrophi... |
OMIM:609942 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Short nose, Prominent nasal bridge, Scoliosis |
ORPHA:1225 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose |
ORPHA:364577 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Arrhythmia, ... |
ORPHA:1519 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Testicular neoplasm |
ORPHA:199244 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchidism, Wide anterio... |
OMIM:180700 |
Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Kyphoscoliosis, Cryptorchidism, Telangiectasia, Hypogonadism, Short nose |
OMIM:268400 |
Omodysplasia 1 |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Pulmonary artery stenosis, Wide nasal bridge,... |
OMIM:258315 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular necrosis of the capital ... |
ORPHA:2044 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Sensorineu... |
OMIM:163950 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Wide nasal bridge |
OMIM:619714 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Wide nasal bridge, Narrow ... |
OMIM:276820 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Kyphosis, Thick nasal septum, Lumbar kyphosis, Mitral regurgitation,... |
OMIM:303600 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nare... |
OMIM:269150 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Hemivertebrae, Short nose, Dan... |
ORPHA:171929 |
Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Anteverted nares, Coarctation of aorta, Platyspondyly, Short nose |
ORPHA:50945 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Ventriculomegaly |
OMIM:252150 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle |
ORPHA:261183 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Tethered cord, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short ne... |
OMIM:617157 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Prominent nasal tip, Short nose, Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Hearing impairment |
OMIM:227650 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Tethered cord, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Patent... |
OMIM:619522 |
Dend Syndrome |
|
Short nose, Anteverted nares |
ORPHA:79134 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Brachydactyly |
OMIM:616028 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Microcornea,... |
OMIM:309800 |
Okamoto Syndrome |
|
Tethered cord, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal br... |
ORPHA:2729 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Cryptorchidism, Wide nasal bridge, Total anomalous pulmonary venous return, Short nose |
OMIM:609945 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge |
ORPHA:90154 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Wiedemann-Steiner Syndrome |
|
Sacral dimple, Short nose, Wide nasal bridge |
ORPHA:319182 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Congestive heart failure, Aortic valve ste... |
OMIM:231050 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Underdeveloped nasal alae, Cryptorchidism, Absent vertebra, Hemivertebrae, Sc... |
OMIM:134780 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Sacral dimple, Depressed nasal bridge, Thoracolumbar scoliosis, Portal hypertension, Prominent no... |
OMIM:619503 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the small intestine, Ad... |
OMIM:276300 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Wide nasal bridge, Anterior beaking of lumbar vertebrae, Scoliosis, ... |
ORPHA:93 |
Primrose Syndrome |
|
Hip contracture, Ptosis, Epicanthus, Metatarsus adductus, Hypoplasia of the maxilla, Synophrys, G... |
OMIM:259050 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Wide nose, Monorchism, Choanal atresia, Depressed nasal ridge, Short n... |
ORPHA:2753 |
C Syndrome |
|
Death in infancy, Sacral dimple, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchi... |
ORPHA:1308 |
Cystinosis, Nephropathic |
|
Male infertility, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigmentary reti... |
OMIM:219800 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Retinal arteriolar tor... |
OMIM:194050 |
Acrocephalopolydactylous Dysplasia |
|
Short nose, Short neck |
OMIM:200995 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Meningocele |
ORPHA:1010 |
Cornelia De Lange Syndrome |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Cryptorchidism, Primary am... |
ORPHA:199 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methylmalonyl-CoA mutase activity, Cerebral cortical atrophy |
OMIM:277410 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Short nose, Anteverted nares, Prominent nasal bridge |
ORPHA:1974 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Thoracolumbar scoliosis, C... |
ORPHA:480880 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Focal T2 hyperintense basal ganglia lesion, Abnormality of Krebs cycle metabolism, Increased CSF ... |
ORPHA:255210 |
Ayme-Gripp Syndrome |
|
Short nose, Depressed nasal bridge, Wide nasal bridge, Pericarditis |
OMIM:601088 |
Pallister-Killian Syndrome |
|
Sacral dimple, Tethered cord, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short nec... |
OMIM:601803 |
Pmm2-Cdg |
|
Pericarditis, Anteverted nares, Prominent nasal bridge, Hypogonadotropic hypogonadism, Prominent ... |
ORPHA:79318 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose |
OMIM:614863 |
Friedreich Ataxia |
|
Decreased pyruvate carboxylase activity |
OMIM:229300 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pulmonary arteriovenous malformation, Narrow nasal ridge, Hypertension, ... |
OMIM:606721 |
Penile Agenesis |
|
Atrophy of the spinal cord, Short nose, Depressed nasal bridge, Cryptorchidism |
ORPHA:49 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Cystic Fibrosis |
|
Male infertility, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Steatorrhea |
OMIM:219700 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Broad nasal tip |
ORPHA:293948 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Aniridia, Hypoplasia of the maxilla |
OMIM:180500 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
Friedreich Ataxia 2 |
|
Hammertoe, Abnormal medulla oblongata morphology, Decreased pyruvate carboxylase activity |
OMIM:601992 |