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Ontology Browser

Term:
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (DOID:9003634)
Annotations: Rat: (15) Mouse: (20) Human: (22) Chinchilla: (0) Bonobo: (1) Dog: (2) Squirrel: (4) Pig: (7) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
3p deletion syndrome  
Absent Patella 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
acromesomelic dysplasia, Grebe type  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
ALFADHEL SYNDROME  
Alkuraya-Kucinskas syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
Antecubital Pterygium 
Aphalangia Syndactyly Microcephaly 
arthrogryposis multiplex congenita +   
Attention Deficit and Disruptive Behavior Disorders +   
Auriculoosteodysplasia 
Ayme-Gripp syndrome  
Bainbridge-Ropers syndrome  
Baker-Gordon Syndrome  
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
Braddock Carey Syndrome +   
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
BURATTI-HAREL SYNDROME  
campomelic dysplasia +   
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CEBALID Syndrome  
Cervical Rib Syndrome +  
Child Behavior Disorders +   
Childhood Schizophrenia  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Chitty Hall Baraitser Syndrome 
CHOPRA-AMIEL-GORDON SYNDROME  
chromosome 15q26-qter deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Chromosome Xq27.3-q28 Duplication Syndrome 
Clark-Baraitser syndrome  
CLOVES syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Cohen-Gibson Syndrome  
communication disorder +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME  
Congenital Hip Dislocation +   
Congenital Limb Deformities +   
Congenital Progeroid Syndrome, Petty Type  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
Dermoids of Cornea 
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
Developmental Disabilities +   
Devriendt syndrome 
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
diphthamide deficiency syndrome 1  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME  
Dyschondrosteosis and Nephritis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Female Pseudohermaphroditism with Skeletal Anomalies 
Fetal Growth Retardation +   
Filippi syndrome  
FLIEDNER-ZWEIER SYNDROME  
Floating-Harbor syndrome  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Funnel Chest +   
GABRIELE-DE VRIES SYNDROME  
Game Friedman Paradice Syndrome 
GAPO syndrome  
gastroschisis +   
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
glycogen storage disease IX +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Hajdu-Cheney syndrome  
Halperin-Birk Syndrome  
Hao-Fountain Syndrome  
Harel-Yoon syndrome  
Heme Oxygenase 1 Deficiency  
Hengel-Maroofian-Schols syndrome  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
hypomyelinating leukodystrophy 8  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
IGF1R-RELATED DISORDER  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
Iridogoniodysgenesis and Skeletal Anomalies 
JABERI-ELAHI SYNDROME  
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kahn-Kahn-Katsanis Syndrome  
Kaya-Barakat-Masson Syndrome  
Kleefstra syndrome 2  
Klippel-Feil syndrome +   
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer Syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
laryngomalacia +   
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 
learning disability +   
Leri-Weill dyschondrosteosis  
LESSEL-KREIENKAMP SYNDROME  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lopes-Maciel-Rodan Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Microcephaly with Cervical Spine Fusion Anomalies 
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Limb Abnormalities  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
mutism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
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 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 Coarse Facies and Mild Distal Skeletal Abnormalities  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
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  
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 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 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 DYSMORPHIC FACIES  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
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, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
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 IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
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, 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 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 BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies.
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
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 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 and poor growth  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
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  
Neurofaciodigitorenal Syndrome 
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
NEUROOCULAR SYNDROME  
Nijmegen Breakage Syndrome-Like Disorder  
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
omodysplasia 1  
Onat Syndrome 
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
Osteolysis Syndrome, Recessive 
Parenti-Mignot Neurodevelopmental Syndrome  
Partington Anderson Syndrome 
Pectus Carinatum  
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
pervasive developmental disorder +   
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pilarowski-Bjornsson Syndrome  
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polydysspondyly 
Popov-Chang Syndrome 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Pseudoarthrogryposis 
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reactive Attachment Disorder  
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seemanova Lesny Syndrome 
separation anxiety disorder  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS  
Short Stature Syndrome, Brussels Type 
Short Stature with Nonspecific Skeletal Abnormalities  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SHOX-related short stature  
Shukla-Vernon syndrome  
Siddiqi syndrome  
Silver-Russell Syndrome 3  
Skraban-Deardorff Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondylometaphyseal dysplasia corner fracture type  
Stankiewicz-Isidor Syndrome  
Steel Syndrome  
stereotypic movement disorder +   
Stern Lubinsky Durrie Syndrome 
Sternal Cleft 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
synostosis +   
Synostosis of Talus and Calcaneus with Short Stature 
TAN-ALMURSHEDI SYNDROME  
Tatton-Brown-Rahman syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thumb Agenesis, Short Stature, and Immunodeficiency 
tic disorder +   
Tonoki Syndrome 
Tracheobronchomalacia +   
Trichohepatoneurodevelopmental Syndrome  
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Ventriculomegaly +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
Wellesley Carmen French Syndrome 
WHITE-KERNOHAN SYNDROME  
Widow's Peak Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann-Steiner syndrome  
Winchester syndrome  
Wittwer Syndrome  
X-linked mental retardation-hypotonic facies syndrome-1  
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Young Hughes Syndrome 
Yuan-Harel-Lupski Syndrome 
Zerres Rietschel Majewski Syndrome 
ZIEGLER-HUANG SYNDROME  
ZTTK Syndrome  

Synonyms
Exact Synonyms: NEDGS
Primary IDs: OMIM:619880
Definition Sources: OMIM:619880

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