Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Joint con... |
OMIM:618266 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Respiratory insu... |
OMIM:617668 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Fine hair, Abnormal cerebr... |
ORPHA:500166 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ... |
OMIM:600638 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Lateral ventricle dilatation, H... |
OMIM:616816 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventricu... |
ORPHA:171703 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus cal... |
ORPHA:79243 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... |
OMIM:619517 |
Martsolf Syndrome 2 |
|
Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal... |
OMIM:619420 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Respiratory insufficiency, Lateral ventricle dilata... |
OMIM:607596 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... |
OMIM:615889 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Synophrys, Leukoencephalopathy,... |
OMIM:620317 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Cryptorchidism, Low ... |
OMIM:619244 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Flexion contracture, Subependymal cysts, Lateral ventricle ... |
OMIM:610015 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum |
OMIM:613162 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus callosum, D... |
OMIM:618736 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Simplified gyral pattern, Knee flexion contrac... |
ORPHA:284417 |
Joubert Syndrome 3 |
|
Central apnea, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Episodic tachypnea, High... |
OMIM:608629 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Craniosynostosis 6 |
|
Microcephaly, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus callosum, D... |
OMIM:616602 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... |
OMIM:221770 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Per... |
OMIM:618291 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Highly arched eyebrow, Microcephaly, Synophrys, Recurrent pneumonia, La... |
OMIM:617751 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Multifocal cerebral white matter abnormalities, Subependymal cysts, Lateral ventricle dila... |
OMIM:600721 |
Pontocerebellar Hypoplasia, Type 13 |
|
Microcephaly, Asthma, Low posterior hairline, Lateral ventricle dilatation, Long eyelashes, Hypop... |
OMIM:618606 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Holoprosencephaly 5 |
|
Synophrys, Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:609637 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Reduced cerebral white matter volume, Sparse eyebrow, Hyposegmentation of neutrophil ... |
OMIM:620075 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Pachygyria |
OMIM:614870 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ... |
ORPHA:2148 |
X-Linked Intellectual Disability, Wilson Type |
|
Inguinal hernia, Microcephaly, Abnormal position of hair whorl, Hydrocele testis, Lateral ventric... |
ORPHA:85290 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... |
ORPHA:488627 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Cryptorchidism, Deep white matter hypodensities, Cerebral ... |
ORPHA:565624 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly |
OMIM:615716 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral calcification, Acute respiratory distress syndrome, Microcephaly, Resp... |
OMIM:617397 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Inguinal hernia, Sparse eyelashes, Sparse scalp hair, Bilateral cryptor... |
ORPHA:544488 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Microcephaly, Hydrocephalus, Low anterior hairline, Cerebral atrophy, Lateral ventricle... |
OMIM:614219 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos... |
ORPHA:208447 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Cach Syndrome |
|
Microcephaly, Flexion contracture, Cerebral atrophy, Hepatosplenomegaly, Lateral ventricle dilata... |
ORPHA:135 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Sparse hair, Thin ... |
OMIM:614105 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly |
OMIM:619278 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Contractures of the large joints, Lateral ventricle dilat... |
ORPHA:3078 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea |
OMIM:616490 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Limb joint contracture, Camptodactyly of finger, Microcephaly, Cor... |
ORPHA:356961 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cryptorchidism, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation,... |
OMIM:619847 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum, Low posterior ... |
ORPHA:420179 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Probst bundles, Respiratory distress, Sparse eyelashes, Hydrocepha... |
OMIM:612863 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum |
OMIM:617854 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint contrac... |
OMIM:618914 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Lateral ventricle dilatation |
OMIM:256850 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Synophrys, Cerebral atrophy,... |
OMIM:620156 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum |
ORPHA:488635 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Sparse later... |
OMIM:619955 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, C... |
ORPHA:263487 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Chronic lung disease, Apnea, Absent septum pellucidum, Supernumerary nipple, Ta... |
ORPHA:397715 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Inguinal hernia, Cholelithiasis, Microcephaly, Sparse eyebrow, Recurrent pneum... |
ORPHA:464738 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Highly arched eyebrow, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, H... |
OMIM:616900 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Flexion contracture, Lateral ventricle di... |
OMIM:613154 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ventriculomegaly, Leukoencephalopathy, Cerebral atrophy, Lateral ventri... |
ORPHA:572798 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the ... |
OMIM:616034 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Thyroid C cell hyperplasia |
OMIM:300952 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Thick eyebrow, Supernumerary nipple, Microcephaly, Highly arched eyebrow, Crypt... |
OMIM:615485 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Co... |
ORPHA:457279 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Microcephaly, Cryptorchidism, Thrombocytopenia, Giant platelets, Cerebral atrophy, Anemia, Latera... |
OMIM:611209 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly, Polymicrogyria, Age... |
OMIM:614833 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Death in childhood, ... |
OMIM:604273 |
Aicardi Syndrome |
|
Microcephaly, Dilated third ventricle, Hiatus hernia, Partial agenesis of the corpus callosum, Re... |
OMIM:304050 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Anemia, Cryptorchidism |
OMIM:620135 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leuk... |
OMIM:619487 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Microcephaly, Flexion contracture, Absence of subcutaneous fat, ... |
OMIM:614098 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation,... |
OMIM:612301 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... |
ORPHA:2822 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Flexion contracture, Lateral ventricle dilatation, Small pituitary... |
OMIM:619479 |
Den Hoed-De Boer-Voisin Syndrome |
|
Thick eyebrow, Microcephaly, Widow's peak, Death in adolescence, Lateral ventricle dilatation, Se... |
OMIM:619229 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of th... |
ORPHA:2524 |
Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Lateral ventricle dilatation,... |
OMIM:619745 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Flexion contracture, Microlissencephaly, Knee flexion co... |
OMIM:210710 |
Weaver Syndrome |
|
Inguinal hernia, Absent septum pellucidum, Cryptorchidism, Fine hair, Hydrocele testis, Lateral v... |
OMIM:277590 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Colpocephaly, ... |
OMIM:618651 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Dysplastic corpus callosum, Hypochromic microcytic anemia, Secondary microcepha... |
OMIM:619423 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Dysplastic corpus callosum, Synophrys, Sparse hair, Agenesis of corpus cal... |
OMIM:616854 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Microcephaly, Cryptorchidism, Widow's peak, Hypoplastic anterior commissure, Hypop... |
OMIM:616975 |
Distal Deletion 10Q |
|
Cavum septum pellucidum, Lateral ventricle dilatation, Widow's peak, Microcephaly |
ORPHA:96148 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callos... |
OMIM:618619 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Absent septum pellucidum, Microcephaly, Flexion contracture, E... |
OMIM:300868 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simplified gyral pattern, Sparse hair |
OMIM:620001 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Hydrocele testis, Neonatal death |
OMIM:618810 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Cryptorchidism, Cortical dysplasia, Lateral ventricle dilatation, Distal arthrogr... |
OMIM:617557 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Thick eyebrow, Microcephaly, Hydrocephalus, Colpocephaly, Distal a... |
OMIM:619833 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Prominent eyelashes, Simplified gy... |
OMIM:619179 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Hypopigmentation of hair, Anterior pituitary hypoplasia, Decreased response... |
ORPHA:177907 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Co... |
OMIM:609053 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Partial agenesis of the corpus callosum, Synophrys, Colpocephaly, ... |
OMIM:620113 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Inguinal hernia, Thick hair, Dysplastic corpus c... |
ORPHA:357058 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Microcephaly, Sparse eyebrow, Lateral ventricle dilatation, Hypoplasia ... |
OMIM:619869 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Thick eyebrow, Microcephaly, Basal ganglia calcificatio... |
OMIM:617281 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Respiratory insufficiency, C... |
OMIM:617260 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Ventriculomegaly, Curly hair, Sparse eyebrow, Dysplastic corpus callosum, Sim... |
ORPHA:500150 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Enamel hypoplasia, Focal white matter lesions, Abnormality of the fro... |
ORPHA:557003 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Thick eyebrow, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618367 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Lateral ventricle dilatatio... |
OMIM:181270 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus |
OMIM:619575 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Pancytopenia, Decreased response t... |
ORPHA:1855 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Pachygyria, Pancreatic fibrosis |
OMIM:263520 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Cryptorchidism, Dysplastic corpus callosum, Partial agenesis ... |
OMIM:619103 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Colpocephaly, Inc... |
ORPHA:261250 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Lateral ventr... |
OMIM:615873 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Microcephaly, Pachygyria, Cryptorchidism, Hydrocephalus, Synophrys, Leuk... |
OMIM:607872 |
Congenital Disorder Of Glycosylation, Type Iim |
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Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
OMIM:300896 |
Cerebrofacioarticular Syndrome |
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Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Camptodactyly, Trach... |
ORPHA:314679 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dry hair, Microcephaly, Dysplastic corpus callosum, Low anterior hairline, Hypoplasia of the corp... |
OMIM:618569 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad eyebrow, Focal hypointensity of cerebral white matter on MRI, Highly arched eyebrow, Asplen... |
ORPHA:261552 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Death in infancy, Cryptorchidism, Splenomegaly, Macrogyria, Hepatosplenomegaly, Death in adolesce... |
OMIM:614866 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Microcephaly, Cryptorchidis... |
OMIM:147920 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, High anterior hairline, Ventriculomegaly, Camptodactyly |
ORPHA:363444 |
Choreoacanthocytosis |
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Caudate atrophy, Acanthocytosis, Abnormal putamen morphology, Splenomegaly, Abnormal erythrocyte ... |
ORPHA:2388 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Colpoceph... |
OMIM:309801 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Inguinal hernia, Anterior pituitary hypoplasia, Aqueductal stenosis, Splenomegaly, Hydrocephalus,... |
OMIM:619534 |
Genitourinary And/Or Brain Malformation Syndrome |
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Omphalocele, Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, ... |
OMIM:618820 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Sparse scalp hair, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, Colpocephaly,... |
ORPHA:477993 |
Khan-Khan-Katsanis Syndrome |
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Ventriculomegaly, Highly arched eyebrow, Microcephaly, Trichiasis, Corneal scarring, Colpocephaly... |
OMIM:618460 |
Lenz-Majewski Hyperostotic Dwarfism |
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Inguinal hernia, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptor... |
OMIM:151050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad eyebrow, Focal hypointensity of cerebral white matter on MRI, Asplenia, Cryptorchidism, Fle... |
ORPHA:261537 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly |
OMIM:301043 |
6Q Terminal Deletion Syndrome |
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Highly arched eyebrow, Low anterior hairline, Abnormal cerebral white matter morphology, Colpocep... |
ORPHA:75857 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Cryptorchidism, Colpocephaly, Highly arched eyebrow, Microcephaly |
OMIM:620083 |
Zttk Syndrome |
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Absent gallbladder, Curly hair, Broad eyebrow, Sparse eyebrow, Dysplastic corpus callosum, Flexio... |
OMIM:617140 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Diffuse cerebral atrophy, Microcephaly, Cryptorchidism, Partial agenesis of the... |
OMIM:270400 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum, Synophrys, Broad medial eyebrow, Long eyelashes, Horizontal eyebrow, ... |
OMIM:619426 |
Genitopatellar Syndrome |
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Hip contracture, Sparse scalp hair, Microcephaly, Cryptorchidism, Knee flexion contracture, Colpo... |
OMIM:606170 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Pneumonia, Highly arched eyebrow, Trichiasis, Cryptorchidi... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst |
OMIM:300967 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Dysplastic corpus ... |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Inguinal hernia, Unilateral cryptorchidism, Decreased response to ... |
OMIM:613406 |