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Term:
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (DOID:9001294)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
bone disease +     
brain disease +     
Facies +     
Acute Febrile Encephalopathy 
akinetic mutism 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
ALFADHEL SYNDROME  
Alkuraya-Kucinskas syndrome  
alveolar echinococcosis  
ALZAHRANI-KUWAHARA SYNDROME  
amblyopia +   
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME  
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME  
Athabaskan brainstem dysgenesis syndrome  
Attention Deficit and Disruptive Behavior Disorders +   
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Baker-Gordon Syndrome  
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
basal ganglia disease +   
baylisascariasis 
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
bejel 
Beta-Ureidopropionase Deficiency  
bone benign neoplasm +   
Bone Cysts +   
bone development disease +   
bone inflammation disease +   
Bone Malalignment +   
Bone Neoplasms +   
bone remodeling disease +   
bone resorption disease +   
bone structure disease +   
Boomerang dysplasia  
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
Brain Abscess +   
brain compression  
Brain Death  
brain edema +   
Brain Hypoxia +   
Brain Injuries +   
Brain Neoplasms +   
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Brunoni Syndrome 
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
BURATTI-HAREL SYNDROME  
Burn-McKeown syndrome  
C syndrome  
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Catel Manzke syndrome  
CEBALID Syndrome  
Central Auditory Diseases +   
central nervous system origin vertigo 
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS  
cerebellar disease +   
cerebellofaciodental syndrome  
cerebral degeneration +   
cerebritis 
cerebrovascular disease +   
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Child Behavior Disorders +   
Childhood Schizophrenia  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome  
chromosome 5p13 duplication syndrome 
Chromosome Xq27.3-q28 Duplication Syndrome 
Chromosome Xq28 Duplication Syndrome  
Chronic Brain Damage +   
Clark-Baraitser syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Colpocephaly 
Combined Pituitary Hormone Deficiency 1  
communication disorder +   
complex cortical dysplasia with other brain malformations +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
Congenital Cerebral Granulomas 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital disorder of deglycosylation 2  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital myopathy 17  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Coxa Magna 
Coxa Valga 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crome Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
cystic echinococcosis  
Davis Lafer Syndrome 
De Hauwere syndrome  
Deafness-Craniofacial Syndrome 
DEGCAGS SYNDROME  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
Der Kaloustian Mcintosh Silver Syndrome 
Dermatoleukodystrophy 
developmental coordination disorder  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
developmental delay, dysmorphic facies, and brain anomalies  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
Developmental Disabilities +   
diabetic encephalopathy  
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
Diets-Jongmans Syndrome  
diphthamide deficiency syndrome 2  
disease of mental health +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Dubowitz syndrome  
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME  
encephalitis +   
encephalomalacia +   
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ENCEPHALOPATHY, ACUTE TRANSIENT  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9  
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3  
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY  
Endocrine Bone Diseases +   
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Eosinophilic Granuloma  
epilepsy +   
Expansile Bone Lesions 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Faundes-Banka Syndrome  
Feingold Trainer Syndrome 
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fibrochondrogenesis +   
fibular collateral ligament bursitis 
Filippi syndrome  
FLIEDNER-ZWEIER SYNDROME  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
Fryns Macrocephaly 
Fryns Syndrome  
GABRIELE-DE VRIES SYNDROME  
geleophysic dysplasia +   
Genu Valgum +   
Genu Varum +   
geroderma osteodysplasticum  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Granddad Syndrome 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Halperin-Birk syndrome  
Hamamy Syndrome  
Hao-Fountain Syndrome  
Harel-Yoon syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
Headache Disorders +   
Hengel-Maroofian-Schols syndrome  
hepatic encephalopathy +   
hereditary spastic paraplegia 23  
heterophyiasis 
hippocampal atrophy  
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly 10  
hypoglycemic coma 
hypomyelinating leukodystrophy 8  
hypothalamic disease +   
IMAGAWA-MATSUMOTO SYNDROME  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infectious Bone Diseases +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
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 DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
intellectual developmental disorder with ocular anomalies and distinctive facial features  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
intellectual disability +   
intracranial hypertension +   
intracranial hypotension 
Iris Dysplasia Hypertelorism Deafness 
ischemic bone disease +   
JABERI-ELAHI SYNDROME  
Jeffries-Lakhani Neurodevelopmental Syndrome  
Joint Dislocations +   
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome  
KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME  
Kaufman oculocerebrofacial syndrome  
Kaya-Barakat-Masson Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Kuzniecky Andermann Syndrome 
Larsen-Like Syndromes +   
learning disability +   
Leri Pleonosteosis 
LESSEL-KREIENKAMP SYNDROME  
Leukoencephalopathies +   
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lichtenstein Syndrome 
Lopes-Maciel-Rodan Syndrome  
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
lymphocytic choriomeningitis  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
MARBACH-RUSTAD PROGEROID SYNDROME  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Marfanoid Mental Retardation Syndrome, Autosomal  
Martsolf Syndrome 2  
McDonough Syndrome 
McPherson Clemens Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Metabolic Bone Diseases +   
Metabolic Brain Diseases +   
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
Microcephaly Deafness Syndrome 
Microcephaly with Cervical Spine Fusion Anomalies 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
movement disease +   
Mowat-Wilson syndrome  
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
Multiple Pterygium Syndrome, X-Linked 
mutism  
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND  
Myoectodermal Gonadal Dysgenesis Syndrome  
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  
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 PLUS OPTIC ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
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 CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities.
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
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 Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN 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, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES  
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 OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES  
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 Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
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 Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY  
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
NEUROOCULAR SYNDROME 1  
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE  
neuroschistosomiasis 
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Non-Lissencephalic Cortical Dysplasia 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculoskeletodental Syndrome  
Ohdo syndrome, SBBYS variant  
Okur-Chung Neurodevelopmental Syndrome  
omodysplasia 2  
orbital disease +   
Oroacral Syndrome, Verloes-Koulischer Type 
osteochondrosis +   
Osteolysis Syndrome, Recessive 
Osteootohepatoenteric Syndrome  
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otoonychoperoneal Syndrome 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Palant Cleft Palate Syndrome 
paracoccidioidomycosis +   
paragonimiasis 
Parenti-Mignot Neurodevelopmental Syndrome  
Partington Anderson Syndrome 
PEHO-like syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
pervasive developmental disorder +   
Pfeiffer Palm Teller Syndrome 
phaeohyphomycosis +  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pilarowski-Bjornsson Syndrome  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Popov-Chang Syndrome 
primary hypertrophic osteoarthropathy +   
prion disease +   
Progeroid Facial Appearance with Hand Anomalies 
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Encephalopathy, with or without Lipodystrophy  
proximal symphalangism +   
Pseudo-TORCH Syndrome +   
pseudobulbar palsy +   
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
Reactive Attachment Disorder  
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome  
Rudiger Syndrome 
Ruvalcaba Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia, Mental Retardation 
Seckel syndrome 1  
Seckel Syndrome 3 
Sener Syndrome 
senile degeneration of brain 
separation anxiety disorder  
Sepsis-Associated Encephalopathy  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
Silver-Russell Syndrome 3  
Skraban-Deardorff Syndrome  
Slipped Epiphyses +  
Snijders Blok-Campeau Syndrome  
sparganosis 
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spastic Pseudosclerosis 
sphenoid sinusitis +  
spinal disease +   
Spinocerebellar Ataxia with Dysmorphism 
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
Stolerman neurodevelopmental syndrome  
Subdural Effusion 
syndromic X-linked intellectual disability Turner type  
TAN-ALMURSHEDI SYNDROME  
tertiary neurosyphilis +   
Tessadori-van Haaften Neurodevelopmental Syndrome +   
Thakker Donnai Syndrome 
thalamic disease +  
Thomas Jewett Raines Syndrome 
Thrombocytopenia 11  
Thrombocytopenia 8  
Thyrocerebral-Retinal Syndrome 
tibial muscular dystrophy  
tic disorder +   
toxocariasis +   
transient global amnesia 
Tricho-Dento-Osseous Syndrome 1 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type III  
Trochlea of the Humerus, Aplasia of 
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Ventriculomegaly +   
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
visceral leishmaniasis  
White Forelock with Malformations 
WHITE-KERNOHAN SYNDROME  
Whyte Murphy Syndrome 
Wiedemann-Steiner syndrome  
Winter Harding Hyde Syndrome 
yaws +  
Yuan-Harel-Lupski Syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: NEDDFSB
Primary IDs: MIM:620073
Definition Sources: MIM:620073

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