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22q11 Deletion Syndrome +
ablepharon macrostomia syndrome
Acute Febrile Encephalopathy
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
Alkuraya-Kucinskas syndrome
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
anterior segment dysgenesis +
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Asymmetric Short Stature Syndrome
Athabaskan brainstem dysgenesis syndrome
Attention Deficit and Disruptive Behavior Disorders +
Axenfeld-Rieger syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Beta-Ureidopropionase Deficiency
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
Brittle Cornea Syndrome +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Central Auditory Diseases +
central nervous system origin vertigo
Cerebellar Hypoplasia with Endosteal Sclerosis
cerebrovascular disease +
Chemke Oliver Mallek Syndrome
Child Behavior Disorders +
chromosome 1q21.1 duplication syndrome
chromosome 6pter-p24 deletion syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cleft palate, cardiac defects, and intellectual disabillity
Cole-Carpenter syndrome +
Colobomatous Macrophthalmia with Microcornea
complex cortical dysplasia with other brain malformations +
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Congenital Cerebral Granulomas
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +
Conotruncal Cardiac Defects
Coronary Vessel Anomalies +
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofaciofrontodigital Syndrome
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
developmental cardiac valvular defect
developmental coordination disorder
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
Developmental Disabilities +
dextro-looped transposition of the great arteries +
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities
disease of mental health +
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Dwarfism Stiff Joint Ocular Abnormalities
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ellis Yale Winter Syndrome
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
exudative vitreoretinopathy +
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
Foveal Hypoplasia and Anterior Segment Dysgenesis
Fronto-Facio-Nasal Dysplasia
GABRIELE-DE VRIES SYNDROME
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
hypertelorism, microtia, facial clefting syndrome
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
IMAGAWA-MATSUMOTO SYNDROME
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
intellectual disability +
intracranial hypertension +
iridogoniodysgenesis syndrome +
Isolated Noncompaction of the Ventricular Myocardium +
Kahn-Kahn-Katsanis Syndrome
Kasznica Carlson Coppedge Syndrome
Kaya-Barakat-Masson Syndrome
Keratosis Follicularis Dwarfism Cerebral Atrophy
Kuzniecky Andermann Syndrome
Larsen-like syndrome B3GAT3 type
LESSEL-KREIENKAMP SYNDROME
Lethal Faciocardiomelic Dysplasia
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Lopes-Maciel-Rodan Syndrome
lymphocytic choriomeningitis
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mehta Lewis Patton Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Metabolic Brain Diseases +
Mexican Cardiomelic Dysplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
Myopathy, Epilepsy, and Progressive Cerebral Atrophy
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
Nephrotic Syndrome with Ocular Anomalies
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
Non-Lissencephalic Cortical Dysplasia
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan syndrome with multiple lentigines +
O'Donnell-Luria-Rodan Syndrome
oblique facial clefting 1
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Okur-Chung Neurodevelopmental Syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
patent ductus arteriosus +
Pena Shokeir Syndrome Type 2
persistent hyperplastic primary vitreous +
Pervasive Child Development Disorders +
Pilarowski-Bjornsson Syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
popliteal pterygium syndrome +
Powell Chandra Saal Syndrome
Prepapillary Vascular Loops
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
Progressive Encephalopathy, with or without Lipodystrophy
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
Pupillary Membrane, Persistence of
Reactive Attachment Disorder
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
Right Ventricle Hypoplasia
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Sacral Meningocele Conotruncal Heart Defects
senile degeneration of brain
separation anxiety disorder
Sepsis-Associated Encephalopathy
Short Stature, Developmental Delay, and Congenital Heart Defects
Simpson-Golabi-Behmel syndrome type 1
Skraban-Deardorff Syndrome
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
STANKIEWICZ-ISIDOR SYNDROME
stereotypic movement disorder +
Structural Heart Defects and Renal Anomalies Syndrome
Subaortic Stenosis, Membranous
Testicular Anomalies with or without Congenital Heart Disease
Thyrocerebral-Retinal Syndrome
torsion dystonia with onset in infancy
Trichohepatoneurodevelopmental Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
Wolff-Parkinson-White syndrome
X-linked cardiac valvular dysplasia
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