| Item Type | Name |
|
Concept
|
Aortic Coarctation
|
|
Concept
|
Ataxia
|
|
Concept
|
Aneurysm
|
|
Concept
|
Congenital Abnormalities
|
|
Concept
|
Abnormalities, Multiple
|
|
Concept
|
Adrenal Gland Diseases
|
|
Concept
|
Amino Acid Metabolism, Inborn Errors
|
|
Concept
|
Brain Damage, Chronic
|
|
Concept
|
Brain Diseases
|
|
Concept
|
Alopecia
|
|
Concept
|
Adrenoleukodystrophy
|
|
Concept
|
Intracranial Aneurysm
|
|
Concept
|
Diffuse Cerebral Sclerosis of Schilder
|
|
Concept
|
Aneuploidy
|
|
Concept
|
Chromosome Fragility
|
|
Concept
|
Anus, Imperforate
|
|
Concept
|
Arthrogryposis
|
|
Concept
|
Amniotic Band Syndrome
|
|
Concept
|
Cleft Lip
|
|
Concept
|
Arnold-Chiari Malformation
|
|
Concept
|
Corneal Diseases
|
|
Concept
|
Cerebral Infarction
|
|
Concept
|
Attention Deficit Disorder with Hyperactivity
|
|
Concept
|
Ataxia Telangiectasia
|
|
Concept
|
DNA Damage
|
|
Concept
|
Atrophy
|
|
Concept
|
Choristoma
|
|
Concept
|
Autistic Disorder
|
|
Concept
|
Basal Ganglia Diseases
|
|
Concept
|
Mental Disorders
|
|
Concept
|
Bladder Exstrophy
|
|
Concept
|
Blepharoptosis
|
|
Concept
|
Calcinosis
|
|
Concept
|
Cerebrovascular Disorders
|
|
Concept
|
Cataract
|
|
Concept
|
Catastrophic Illness
|
|
Concept
|
Cerebellar Ataxia
|
|
Concept
|
Developmental Disabilities
|
|
Concept
|
Child Development Disorders, Pervasive
|
|
Concept
|
Cerebellar Diseases
|
|
Concept
|
Child Behavior Disorders
|
|
Concept
|
Fetal Diseases
|
|
Concept
|
Cell Transformation, Neoplastic
|
|
Concept
|
Chromosome Deletion
|
|
Concept
|
Coloboma
|
|
Concept
|
Cleft Palate
|
|
Concept
|
Cognition Disorders
|
|
Concept
|
Growth Disorders
|
|
Concept
|
Connective Tissue Diseases
|
|
Concept
|
Chorea
|
|
Concept
|
Hearing Loss, Sensorineural
|
|
Concept
|
Dandy-Walker Syndrome
|
|
Concept
|
Diabetes Mellitus, Type 1
|
|
Concept
|
Hernia, Umbilical
|
|
Concept
|
Cystic Fibrosis
|
|
Concept
|
Hypesthesia
|
|
Concept
|
Digestive System Abnormalities
|
|
Concept
|
Disease
|
|
Concept
|
Demyelinating Diseases
|
|
Concept
|
Epilepsy
|
|
Concept
|
Congenital Hypothyroidism
|
|
Concept
|
Cerebral Hemorrhage
|
|
Concept
|
Cutis Laxa
|
|
Concept
|
Ehlers-Danlos Syndrome
|
|
Concept
|
Eye Movements
|
|
Concept
|
Gonadal Dysgenesis, 46,XY
|
|
Concept
|
Deglutition Disorders
|
|
Concept
|
Eye Diseases
|
|
Concept
|
Facial Neoplasms
|
|
Concept
|
Eye Neoplasms
|
|
Concept
|
Cockayne Syndrome
|
|
Concept
|
Craniosynostoses
|
|
Concept
|
Diplopia
|
|
Concept
|
Diseases in Twins
|
|
Concept
|
Dwarfism
|
|
Concept
|
Fragile X Syndrome
|
|
Concept
|
Fetal Growth Retardation
|
|
Concept
|
Fibroma
|
|
Concept
|
Chromosome Inversion
|
|
Concept
|
Esophageal Atresia
|
|
Concept
|
Eye Abnormalities
|
|
Concept
|
Muscle Hypotonia
|
|
Concept
|
Musculoskeletal Abnormalities
|
|
Concept
|
Glaucoma
|
|
Concept
|
Fibrous Dysplasia, Polyostotic
|
|
Concept
|
Kidney Diseases
|
|
Concept
|
Klippel-Trenaunay-Weber Syndrome
|
|
Concept
|
Haemophilus Infections
|
|
Concept
|
Focal Dermal Hypoplasia
|
|
Concept
|
Osteogenesis Imperfecta
|
|
Concept
|
Dystonia
|
|
Concept
|
Dysarthria
|
|
Concept
|
Edema
|
|
Concept
|
Hypertrophy
|
|
Concept
|
Intestinal Atresia
|
|
Concept
|
Paresis
|
|
Concept
|
Facial Expression
|
|
Concept
|
Gastroesophageal Reflux
|
|
Concept
|
Headache
|
|
Concept
|
Language Development Disorders
|
|
Concept
|
Functional Laterality
|
|
Concept
|
Hypertension, Portal
|
|
Concept
|
Microcephaly
|
|
Concept
|
Movement Disorders
|
|
Concept
|
Muscular Diseases
|
|
Concept
|
Necrosis
|
|
Concept
|
Intellectual Disability
|
|
Concept
|
Microphthalmos
|
|
Concept
|
Hemangioma, Cavernous
|
|
Concept
|
Ring Chromosomes
|
|
Concept
|
Nervous System Diseases
|
|
Concept
|
Osteochondrodysplasias
|
|
Concept
|
Liver Cirrhosis
|
|
Concept
|
Peripheral Nervous System Diseases
|
|
Concept
|
Parkinson Disease, Secondary
|
|
Concept
|
Disorders of Sex Development
|
|
Concept
|
Pierre Robin Syndrome
|
|
Concept
|
Olivopontocerebellar Atrophies
|
|
Concept
|
Postmortem Changes
|
|
Concept
|
Genetic Markers
|
|
Concept
|
Hirschsprung Disease
|
|
Concept
|
Hamartoma
|
|
Concept
|
Heart Defects, Congenital
|
|
Concept
|
Retinal Degeneration
|
|
Concept
|
Retinal Diseases
|
|
Concept
|
Psychomotor Disorders
|
|
Concept
|
Quadriplegia
|
|
Concept
|
Wolff-Parkinson-White Syndrome
|
|
Concept
|
Spasms, Infantile
|
|
Concept
|
Reye Syndrome
|
|
Concept
|
Retinitis Pigmentosa
|
|
Concept
|
Skin Abnormalities
|
|
Concept
|
Skin Pigmentation
|
|
Concept
|
Hepatolenticular Degeneration
|
|
Concept
|
Skin Diseases
|
|
Concept
|
Syndactyly
|
|
Concept
|
Hypogonadism
|
|
Concept
|
Body Mass Index
|
|
Concept
|
Holoprosencephaly
|
|
Concept
|
Tremor
|
|
Concept
|
Tracheoesophageal Fistula
|
|
Concept
|
Syndrome
|
|
Concept
|
Trisomy
|
|
Concept
|
Vesico-Ureteral Reflux
|
|
Concept
|
Rett Syndrome
|
|
Concept
|
Trinucleotide Repeat Expansion
|
|
Concept
|
Vascular Diseases
|
|
Concept
|
Velopharyngeal Insufficiency
|
|
Concept
|
Urogenital Abnormalities
|
|
Concept
|
Central Nervous System Neoplasms
|
|
Concept
|
Sex Chromosome Disorders
|
|
Concept
|
Antiphospholipid Syndrome
|
|
Concept
|
Lupus Erythematosus, Systemic
|
|
Concept
|
Mandibulofacial Dysostosis
|
|
Concept
|
Weight Gain
|
|
Concept
|
Vestibular Diseases
|
|
Concept
|
Myoclonus
|
|
Concept
|
Nervous System Malformations
|
|
Concept
|
Limb Deformities, Congenital
|
|
Concept
|
Muscular Dystrophies
|
|
Concept
|
Neoplasm Metastasis
|
|
Concept
|
Nerve Degeneration
|
|
Concept
|
Nystagmus, Pathologic
|
|
Concept
|
Severe Combined Immunodeficiency
|
|
Concept
|
Blepharophimosis
|
|
Concept
|
Stiff-Person Syndrome
|
|
Concept
|
Sequence Deletion
|
|
Concept
|
Myofibromatosis
|
|
Concept
|
Craniofacial Abnormalities
|
|
Concept
|
Stereotypic Movement Disorder
|
|
Concept
|
Recovery of Function
|
|
Concept
|
Aging, Premature
|
|
Concept
|
Malformations of Cortical Development
|
|
Concept
|
Parkinson Disease
|
|
Concept
|
Nevus
|
|
Concept
|
Nevus, Pigmented
|
|
Concept
|
Noonan Syndrome
|
|
Concept
|
Skin Diseases, Vascular
|
|
Concept
|
Respiratory Rate
|
|
Concept
|
Genetic Association Studies
|
|
Concept
|
Polydactyly
|
|
Concept
|
Fatal Outcome
|
|
Concept
|
Sotos Syndrome
|
|
Concept
|
Megalencephaly
|
|
Concept
|
Optic Atrophy
|
|
Concept
|
Genetic Diseases, X-Linked
|
|
Concept
|
Lymphatic Abnormalities
|
|
Concept
|
Mental Retardation, X-Linked
|
|
Concept
|
Rhabdoid Tumor
|
|
Concept
|
Congenital Disorders of Glycosylation
|
|
Concept
|
Paraparesis, Spastic
|
|
Concept
|
Intracranial Arterial Diseases
|
|
Concept
|
Central Nervous System Cysts
|
|
Concept
|
Migraine with Aura
|
|
Concept
|
Genetic Diseases, Inborn
|
|
Concept
|
Neurocutaneous Syndromes
|
|
Concept
|
Spinocerebellar Ataxias
|
|
Concept
|
Dyskinesias
|
|
Concept
|
Septo-Optic Dysplasia
|
|
Concept
|
Polyradiculoneuropathy
|
|
Concept
|
Pregnancy Complications, Infectious
|
|
Concept
|
Pseudopseudohypoparathyroidism
|
|
Concept
|
Pseudotumor Cerebri
|
|
Concept
|
Lissencephaly
|
|
Concept
|
Cobblestone Lissencephaly
|
|
Concept
|
Sex Chromosome Aberrations
|
|
Concept
|
Spinocerebellar Degenerations
|
|
Concept
|
Teratoma
|
|
Concept
|
Primary Myelofibrosis
|
|
Concept
|
Costello Syndrome
|
|
Concept
|
Cerebral Small Vessel Diseases
|
|
Concept
|
Cognitive Dysfunction
|
|
Concept
|
Agenesis of Corpus Callosum
|
|
Concept
|
Skin Neoplasms
|
|
Concept
|
Periventricular Nodular Heterotopia
|
|
Concept
|
Telangiectasis
|
|
Concept
|
Hydrops Fetalis
|
|
Concept
|
Aicardi Syndrome
|
|
Concept
|
Kidney Diseases, Cystic
|
|
Concept
|
Tuberous Sclerosis
|
|
Concept
|
Eye Diseases, Hereditary
|
|
Concept
|
Malformations of Cortical Development, Group II
|
|
Concept
|
Ectopia Cordis
|
|
Concept
|
Stroke
|
|
Concept
|
Acrocallosal Syndrome
|
|
Concept
|
Williams Syndrome
|
|
Concept
|
Neurodegenerative Diseases
|
|
Concept
|
Dystonic Disorders
|
|
Concept
|
Hearing Loss
|
|
Concept
|
Chromosome Disorders
|
|
Concept
|
Vascular Malformations
|
|
Concept
|
Immune Evasion
|
|
Concept
|
Haploinsufficiency
|
|
Concept
|
Chromosome Duplication
|
|
Concept
|
Classical Lissencephalies and Subcortical Band Heterotopias
|
|
Concept
|
Body Dysmorphic Disorders
|
|
Concept
|
46, XX Disorders of Sex Development
|
|
Concept
|
Walker-Warburg Syndrome
|
|
Concept
|
Anemia, Sickle Cell
|
|
Concept
|
Bone Diseases, Developmental
|
|
Concept
|
Brain Neoplasms
|
|
Concept
|
Chromosome Aberrations
|
|
Concept
|
Clubfoot
|
|
Concept
|
Craniopharyngioma
|
|
Concept
|
Cryptorchidism
|
|
Concept
|
Disease Models, Animal
|
|
Concept
|
Encephalocele
|
|
Concept
|
Facial Asymmetry
|
|
Concept
|
Facial Paralysis
|
|
Concept
|
Fetal Death
|
|
Concept
|
Hand Deformities, Congenital
|
|
Concept
|
Hydrocephalus
|
|
Concept
|
Hyperkinesis
|
|
Concept
|
Hypothalamic Diseases
|
|
Concept
|
Lipomatosis
|
|
Concept
|
Liver Diseases
|
|
Concept
|
Lymphedema
|
|
Concept
|
Muscle Spasticity
|
|
Concept
|
Neoplasms
|
|
Concept
|
Orofaciodigital Syndromes
|
|
Concept
|
Pituitary Neoplasms
|
|
Concept
|
Seizures
|
|
Concept
|
Retinal Dysplasia
|
|
Concept
|
Ocular Motility Disorders
|
|
Concept
|
Liver Failure, Acute
|
|
Concept
|
Age of Onset
|
|
Concept
|
Chromosome Breakage
|
|
Concept
|
Parkinsonian Disorders
|
|
Concept
|
Central Nervous System Vascular Malformations
|
|
Concept
|
Leukoencephalopathies
|
|
Concept
|
Loose Anagen Hair Syndrome
|
|
Academic Article
|
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
|
|
Academic Article
|
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
|
|
Academic Article
|
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
|
|
Academic Article
|
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
|
|
Academic Article
|
Clinical spectrum of Wilson's disease (hepatolenticular degeneration).
|
|
Academic Article
|
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
|
|
Academic Article
|
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
|
|
Academic Article
|
Antibodies to ACTH in opsoclonus-myoclonus.
|
|
Academic Article
|
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
|
|
Academic Article
|
Clinical nosologic and genetic aspects of Joubert and related syndromes.
|
|
Academic Article
|
A classification scheme for malformations of cortical development.
|
|
Academic Article
|
Absence makes the search grow longer.
|
|
Academic Article
|
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
|
|
Academic Article
|
Causal heterogeneity in isolated lissencephaly.
|
|
Academic Article
|
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
|
|
Academic Article
|
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
|
|
Academic Article
|
Beyond G?mez-L?pez-Hern?ndez syndrome: recurring phenotypic themes in rhombencephalosynapsis.
|
|
Academic Article
|
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
|
|
Academic Article
|
Miller-Dieker syndrome: lissencephaly and monosomy 17p.
|
|
Academic Article
|
Polymicrogyria and motor neuropathy in Micro syndrome.
|
|
Academic Article
|
Lissencephaly and other malformations of cortical development: 1995 update.
|
|
Academic Article
|
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
|
|
Academic Article
|
Cerebellar ataxia with progressive improvement.
|
|
Academic Article
|
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
|
|
Academic Article
|
The neurogenetics of lissencephaly.
|
|
Academic Article
|
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
|
|
Academic Article
|
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
|
|
Academic Article
|
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
|
|
Academic Article
|
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
|
|
Academic Article
|
Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
|
|
Academic Article
|
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
|
|
Academic Article
|
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
|
|
Academic Article
|
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
|
|
Academic Article
|
The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.
|
|
Academic Article
|
Epilepsy and outcome in FOXG1-related disorders.
|
|
Academic Article
|
Microlissencephaly: a heterogeneous malformation of cortical development.
|
|
Academic Article
|
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
|
|
Academic Article
|
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
|
|
Academic Article
|
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
|
|
Academic Article
|
Diagnostic criteria for Walker-Warburg syndrome.
|
|
Academic Article
|
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
|
|
Academic Article
|
Childhood stroke and lupus anticoagulant.
|
|
Academic Article
|
Progress in autism and related disorders of brain development.
|
|
Academic Article
|
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
|
Academic Article
|
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
|
|
Academic Article
|
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
|
|
Academic Article
|
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
|
|
Academic Article
|
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
|
|
Academic Article
|
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
|
|
Academic Article
|
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
|
|
Academic Article
|
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
|
|
Academic Article
|
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
|
Academic Article
|
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
|
|
Academic Article
|
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
|
|
Academic Article
|
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
|
|
Academic Article
|
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
|
|
Academic Article
|
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
|
|
Academic Article
|
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
|
|
Academic Article
|
Genotype-phenotype correlation at codon 1740 of SETD2.
|
|
Academic Article
|
Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
|
|
Academic Article
|
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
|
|
Academic Article
|
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
|
|
Academic Article
|
DLG4-related synaptopathy: a new rare brain disorder.
|
|
Academic Article
|
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
|
|
Academic Article
|
Expanding the KIF4A-associated phenotype.
|
|
Academic Article
|
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
|
|
Academic Article
|
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
|
|
Academic Article
|
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
|
|
Concept
|
Pediatric Obesity
|
|
Concept
|
Hemimegalencephaly
|
|
Concept
|
Neurodevelopmental Disorders
|
|
Concept
|
Polymicrogyria
|
|
Grant
|
ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
|
|
Grant
|
The genetic basis of Dandy-Walker and other mid-hindbrain malformations
|