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Term:
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; (DOID:9007117)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Absent Patella 
acromesomelic dysplasia, Grebe type  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
ALKURAYA-KUCINSKAS SYNDROME  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Antecubital Pterygium 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arthrogryposis +   
Attention Deficit and Disruptive Behavior Disorders +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
BAKER-GORDON SYNDROME  
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachytelephalangy Characteristic Facies Kallmann 
Brunoni Syndrome 
Burn-Mckeown Syndrome  
campomelic dysplasia +   
cardiofaciocutaneous syndrome +   
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebellofaciodental Syndrome  
Cervical Rib Syndrome +  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Child Behavior Disorders +   
Childhood Schizophrenia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
CLOVES syndrome  
Coffin-Siris syndrome +   
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
communication disorder +   
Congenital Absence of Gluteal Muscles 
Congenital Absence of the Sternocleidomastoid Muscle 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hip Dislocation +   
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Limb Deformities +   
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniofacial Abnormalities +   
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
Developmental Disabilities +   
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
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 
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 
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fryns Macrocephaly 
Fryns Syndrome 
Funnel Chest +   
GABRIELE-DE VRIES SYNDROME  
gastroschisis +   
Geleophysic Dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hajdu-Cheney syndrome  
HAREL-YOON SYNDROME  
Haspeslagh Fryns Muelenaere Syndrome 
hereditary spastic paraplegia 23  
Holoprosencephaly 10 
Hypotonia, Seizures, and Precocious Puberty 
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
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 NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
intellectual disability +   
Iridogoniodysgenesis and Skeletal Anomalies 
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
JABERI-ELAHI SYNDROME  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra Syndrome 2  
Klippel-Feil syndrome +   
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen-Like Syndromes +   
Laryngomalacia +   
learning disability +   
Leri Pleonosteosis 
Lichtenstein Syndrome 
Lopes-Maciel-Rodan Syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
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 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
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 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
mutism  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER  
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;   
A developmental disorder characterized by mildly impaired global development apparent from infancy, poor speech acquisition, hypotonia with early feeding difficulties, mildly delayed walking, and variable behavioral abnormalities. Mutations occur de novo, such that the disorder occurs sporadically in patients with no family history of a similar disorder.
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
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 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, EPILEPSY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
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 REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
O'DONNELL-LURIA-RODAN SYNDROME  
Oculoskeletodental Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Omodysplasia 2  
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome Recessive 
Otoonychoperoneal Syndrome 
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Pectus Carinatum  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pervasive Child Development Disorders +   
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
PILAROWSKI-BJORNSSON SYNDROME  
Popov-Chang Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Pseudoarthrogryposis 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Reactive Attachment Disorder 
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 
Sacral Agenesis with Vertebral Anomalies  
Sacrococcygeal Dysgenesis Association 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
separation anxiety disorder  
Severe Growth Restriction with Distinctive Facies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
SHUKLA-VERNON SYNDROME  
Skraban-Deardorff Syndrome  
Snijders Blok-Campeau Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
STANKIEWICZ-ISIDOR SYNDROME  
Steel Syndrome  
stereotypic movement disorder +   
Sternal Cleft 
syndromic X-linked intellectual disability Turner type  
synostosis +   
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
tic disorder +   
Tracheobronchomalacia +   
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Ventriculomegaly  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
White Forelock with Malformations 
Widow's Peak Syndrome 
Winter Harding Hyde Syndrome 
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zechi-Ceide Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: NEDCFSA
Primary IDs: OMIM:618505
Definition Sources: OMIM:618505

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.