Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques |
|
Substantia nigra gliosis |
OMIM:125320 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... |
OMIM:614963 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology, Cognitive impairment |
ORPHA:397725 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Ataxia, Dystonia, Short stature |
OMIM:616113 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morph... |
ORPHA:280195 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
Joubert Syndrome 10 |
|
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Decreased body weight, Abnormal hypothalamus morphology, Shor... |
ORPHA:314621 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification |
OMIM:618824 |
Orofaciodigital Syndrome Vi |
|
Failure to thrive, Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Molar too... |
OMIM:277170 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:617562 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Postnatal growth retardation, Abnormal hypothalamus morph... |
ORPHA:54595 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:619072 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... |
OMIM:617622 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Shor... |
ORPHA:1532 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, T2 hypointense thalamus, Dementia |
OMIM:618193 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Joubert Syndrome 32 |
|
Large for gestational age, Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal hypothalamus morphology, Abnor... |
ORPHA:68 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Mental deterioration, Hypothalamic atrophy, Memory impairment, Dementia |
ORPHA:2822 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Severe short stature, Small for gestational age, Growth de... |
OMIM:619057 |
Slc35A2-Cdg |
|
Short stature, Atrophy/Degeneration affecting the brainstem, Elevated circulating thyroid-stimula... |
ORPHA:356961 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons |
OMIM:617542 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Small for gestational age |
OMIM:300076 |
Bilateral Frontoparietal Polymicrogyria |
|
Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Cerebellar ... |
ORPHA:101070 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Failure to thrive, Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Proportionate short stature, Increased body weight, Increased circulating... |
ORPHA:759 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Infe... |
OMIM:619476 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... |
ORPHA:370022 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic Adhesion |
OMIM:618929 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Fusion of the left and r... |
OMIM:619306 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Dementia, Motor deterioration, T2 hypointense thalamus, Cognitive impairment |
ORPHA:1947 |
Joubert Syndrome 37 |
|
Obesity, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature |
OMIM:619185 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619111 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:610688 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology |
OMIM:613724 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:618161 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:608629 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume, Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth... |
ORPHA:370959 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Hypoplasia ... |
OMIM:615181 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... |
OMIM:613153 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of ... |
OMIM:611134 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormality of thalamus morphology,... |
ORPHA:300570 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cereb... |
ORPHA:2570 |
Cerebellar-Facial-Dental Syndrome |
|
Failure to thrive, Severe short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Inferior ... |
ORPHA:444072 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Progressive language deterioration, Cognitive impairment, ... |
ORPHA:79264 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia, Increas... |
ORPHA:8 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Failure to thrive, Abnormal cerebellum morphology, Rhizom... |
ORPHA:397715 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Failure to thrive, Dysgenesis of the cerebellar vermis, A... |
OMIM:608091 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Abnormal cerebellum morphology, Pituitary null cell adenoma, ... |
ORPHA:251937 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Abnormal nonverbal communicative behavior, Abnormal thalamic MRI signal intensity, ... |
ORPHA:485421 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, T2 hypointense thalamus, Atrophy/Degeneratio... |
ORPHA:135 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology, Abnormal brainstem morphology, Abnormal brainstem MRI signal ... |
ORPHA:88619 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphol... |
ORPHA:2720 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Failure to thrive, Poor eye contact |
OMIM:619046 |
Hsd10 Disease |
|
Postnatal growth retardation, Abnormal social behavior |
ORPHA:391417 |
Orofaciodigital Syndrome Type 6 |
|
Failure to thrive, Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Growth de... |
ORPHA:2754 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Abnormal substantia nigra morpho... |
ORPHA:79139 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
Neuroferritinopathy |
|
Cognitive impairment, T2 hypointense thalamus, Subcortical dementia, Frontal lobe dementia, Abnor... |
ORPHA:157846 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Dysgenesis of the cerebellar vermis, Cerebellar hypoplasia, Cerebellar ... |
OMIM:617751 |
Coach Syndrome 1 |
|
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the ce... |
OMIM:216360 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal ... |
ORPHA:163961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Opisthotonus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ce... |
ORPHA:98755 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:363558 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Joubert Syndrome 39 |
|
Overweight, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619562 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Memory impairment, Cognitive impairment |
ORPHA:70595 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:293987 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:213300 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:95513 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia |
OMIM:615960 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Disproportionate short-limb short stature, Molar tooth sign on MRI, Dysgenesis of the cerebellar ... |
OMIM:619479 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Overweight, Cerebellar dysplasia, Short st... |
ORPHA:457240 |
Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2318 |
Arima Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebellar ver... |
OMIM:243910 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:95512 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:220497 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity |
ORPHA:254930 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothalamic hamartoma |
OMIM:619908 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... |
ORPHA:370997 |
Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Short stature |
ORPHA:557003 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:220493 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Impaired social interactions, Hypothalamic hamartoma |
OMIM:619775 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Agenesis of cerebella... |
ORPHA:59315 |
Leigh Syndrome |
|
Failure to thrive, Abnormal brainstem MRI signal intensity, Olivopontocerebellar atrophy, Abnorma... |
ORPHA:506 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology, Failure to thrive, Abnormal brainstem morphology |
ORPHA:70474 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Short stature |
OMIM:616202 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia, Absent mesencephalon |
OMIM:601374 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Cognitive impairment |
ORPHA:2959 |
Acute Disseminated Encephalomyelitis |
|
Abnormal cerebellum morphology, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI si... |
ORPHA:83597 |
Crome Syndrome |
|
Cerebellar dysplasia, Short stature |
OMIM:218900 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Memory impairment, Cognitive impairment |
ORPHA:48818 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:1327 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Abnormal social behavior |
ORPHA:530983 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology |
ORPHA:404440 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Joubert Syndrome 5 |
|
Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, A... |
OMIM:610188 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:616546 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:435638 |
Meningioma |
|
Abnormal cerebellum morphology, Enlarged pituitary gland, Reduced circulating prolactin concentra... |
ORPHA:2495 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Hydranencephaly |
|
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Thalamic edem... |
ORPHA:2177 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
Dopa-Responsive Dystonia |
|
Abnormal social behavior |
ORPHA:255 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Meckel Syndrome, Type 1 |
|
Intrauterine growth retardation, Dilated fourth ventricle, Cerebellar hypoplasia, Chiari malforma... |
OMIM:249000 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar hypoplasia, Partial absence of cerebellar vermis, Cerebellar dysplasia, Cerebellar cys... |
OMIM:613150 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Dandy-Walker malforma... |
ORPHA:434179 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Tay-Sachs Disease |
|
Abnormal thalamic MRI signal intensity, Memory impairment |
ORPHA:845 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Small for gestational age, Birth length less than 3rd percentile, Abnormal bra... |
ORPHA:464311 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth retardation |
ORPHA:1393 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Short stature, Pan... |
OMIM:146510 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume, Postnatal growth retardation, Short stature |
ORPHA:168577 |
Microphthalmia, Syndromic 3 |
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Postnatal growth retardation, Short stature, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
Fg Syndrome Type 1 |
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Slender build, Abnormal social behavior, Short stature |
ORPHA:93932 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
48,Xxxy Syndrome |
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Obesity, Abnormal social behavior |
ORPHA:96263 |
Trisomy 20P |
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Spina bifida, Umbilical hernia |
ORPHA:261318 |
Neu-Laxova Syndrome |
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Spina bifida, Intrauterine growth retardation, Opisthotonus |
ORPHA:2671 |
Orofaciodigital Syndrome Xiv |
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Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:615948 |
Microgastria-Limb Reduction Defects Association |
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Failure to thrive, Fusion of the left and right thalami |
OMIM:156810 |
Vacterl With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Neu-Laxova Syndrome 2 |
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Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Posterior Meningocele |
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Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele |
ORPHA:268810 |
Orofaciodigital Syndrome I |
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Cerebellar cyst, Short stature, Hypothalamic hamartoma |
OMIM:311200 |
Semilobar Holoprosencephaly |
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Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Failure to thrive, Decreased response to growth hormone stimulation test, Short stature, Panhypop... |
ORPHA:93924 |
Mosaic Trisomy 9 |
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Spina bifida, Intrauterine growth retardation |
ORPHA:99776 |
Trisomy 18 |
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Intrauterine growth retardation, Spina bifida, Anencephaly, Holoprosencephaly |
ORPHA:3380 |
Holoprosencephaly 7 |
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Panhypopituitarism, Fusion of the left and right thalami |
OMIM:610828 |
Hallermann-Streiff Syndrome |
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Choreoathetosis, Spina bifida |
OMIM:234100 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Short stature, Obesity, Impaired social interactions, Intrauterine grow... |
ORPHA:177907 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Pallister-Hall Syndrome |
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Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Hypothalamic hamartoma, Short s... |
ORPHA:672 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Limb Body Wall Complex |
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Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... |
ORPHA:2369 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hydrocephalus, Hyperthyroidism, Arrhinencephaly, Hypothyroidism, Umbilical he... |
ORPHA:567 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior |
ORPHA:1020 |
Focal Dermal Hypoplasia |
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Spina bifida, Umbilical hernia |
ORPHA:2092 |
Williams Syndrome |
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Overfriendliness, Abnormal social behavior, Short stature, Abnormality of the diencephalon, Chiar... |
ORPHA:904 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Fibular Hemimelia |
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Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome 1 |
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Stillbirth, Short umbilical cord, Hydranencephaly, Small placenta, Spina bifida, Intrauterine gro... |
OMIM:256520 |
Norrie Disease |
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Failure to thrive, Cachexia, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:649 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Basal Cell Nevus Syndrome |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Mend Syndrome |
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Abnormal social behavior, Failure to thrive, Short stature |
ORPHA:401973 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Meningocele |
ORPHA:991 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abnormal social behavior |
ORPHA:309263 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Exocrine pancreatic insufficiency, Spina bifida |
ORPHA:508498 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Slender build, Overfriendliness, Abnormal social behavior, Small for gestational age, Postnatal g... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Slender build, Overfriendliness, Abnormal social behavior, Small for gestational age, Postnatal g... |
ORPHA:363958 |
Jacobsen Syndrome |
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Spina bifida, Intrauterine growth retardation |
ORPHA:2308 |
Metachromatic Leukodystrophy, Adult Form |
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Abnormal social behavior |
ORPHA:309271 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Spina bifida |
OMIM:619480 |
Fanconi Anemia |
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Hydrocephalus, Spina bifida, Intrauterine growth retardation, Umbilical hernia |
ORPHA:84 |
Campomelic Dysplasia |
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Spinal dysraphism, Spina bifida, Hydrocephalus |
OMIM:114290 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida |
OMIM:274000 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Neurofibromatosis, Type I |
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Hydrocephalus, Spina bifida, Aqueductal stenosis |
OMIM:162200 |
Rubinstein-Taybi Syndrome 1 |
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Spina bifida, Spina bifida occulta |
OMIM:180849 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Abnormal social behavior |
ORPHA:1675 |
Split Cord Malformation |
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Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele |
ORPHA:573278 |
Vater/Vacterl Association |
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Intrauterine growth retardation, Spina bifida, Occipital encephalocele, Patent urachus |
OMIM:192350 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
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Abnormal social behavior |
ORPHA:805 |
Niemann-Pick Disease Type C |
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Abnormal social behavior |
ORPHA:646 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |