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Ontology Browser
Term:
developmental delay, dysmorphic facies, and brain anomalies (DOID:0060933)
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
Agenesis of Corpus Callosum +   
Aicardi-Goutieres syndrome +   
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
ALFADHEL SYNDROME  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arboleda-Tham syndrome  
Athabaskan brainstem dysgenesis syndrome  
Au-Kline Syndrome  
autosomal dominant intellectual developmental disorder 1  
autosomal dominant intellectual developmental disorder 10  
autosomal dominant intellectual developmental disorder 11  
autosomal dominant intellectual developmental disorder 13  
autosomal dominant intellectual developmental disorder 19  
autosomal dominant intellectual developmental disorder 2  
autosomal dominant intellectual developmental disorder 21  
autosomal dominant intellectual developmental disorder 22  
autosomal dominant intellectual developmental disorder 23  
autosomal dominant intellectual developmental disorder 26  
autosomal dominant intellectual developmental disorder 29  
autosomal dominant intellectual developmental disorder 3  
autosomal dominant intellectual developmental disorder 30  
autosomal dominant intellectual developmental disorder 31  
autosomal dominant intellectual developmental disorder 33  
autosomal dominant intellectual developmental disorder 34  
autosomal dominant intellectual developmental disorder 35  
autosomal dominant intellectual developmental disorder 36  
autosomal dominant intellectual developmental disorder 38  
autosomal dominant intellectual developmental disorder 39  
autosomal dominant intellectual developmental disorder 4  
autosomal dominant intellectual developmental disorder 40  
autosomal dominant intellectual developmental disorder 41  
autosomal dominant intellectual developmental disorder 42  
autosomal dominant intellectual developmental disorder 43  
autosomal dominant intellectual developmental disorder 44  
autosomal dominant intellectual developmental disorder 45  
autosomal dominant intellectual developmental disorder 46  
autosomal dominant intellectual developmental disorder 47  
autosomal dominant intellectual developmental disorder 48  
autosomal dominant intellectual developmental disorder 5  
autosomal dominant intellectual developmental disorder 50  
autosomal dominant intellectual developmental disorder 51  
autosomal dominant intellectual developmental disorder 52  
autosomal dominant intellectual developmental disorder 53  
autosomal dominant intellectual developmental disorder 54  
autosomal dominant intellectual developmental disorder 55  
autosomal dominant intellectual developmental disorder 56  
Autosomal Dominant Intellectual Developmental Disorder 57  
Autosomal Dominant Intellectual Developmental Disorder 58  
Autosomal Dominant Intellectual Developmental Disorder 59  
autosomal dominant intellectual developmental disorder 6  
Autosomal Dominant Intellectual Developmental Disorder 60  
Autosomal Dominant Intellectual Developmental Disorder 61  
Autosomal Dominant Intellectual Developmental Disorder 62  
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly  
Autosomal Dominant Intellectual Developmental Disorder 64  
Autosomal Dominant Intellectual Developmental Disorder 65  
Autosomal Dominant Intellectual Developmental Disorder 66  
Autosomal Dominant Intellectual Developmental Disorder 67  
Autosomal Dominant Intellectual Developmental Disorder 68  
Autosomal Dominant Intellectual Developmental Disorder 69  
autosomal dominant intellectual developmental disorder 7  
Autosomal Dominant Intellectual Developmental Disorder 70  
Autosomal Dominant Intellectual Developmental Disorder 71  
Autosomal Dominant Intellectual Developmental Disorder 72  
Autosomal Dominant Intellectual Developmental Disorder 73  
Autosomal Dominant Intellectual Developmental Disorder 74  
autosomal dominant intellectual developmental disorder 8  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Boomerang dysplasia  
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
Brunoni Syndrome 
Burn-McKeown syndrome  
C syndrome  
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
cerebellar hypoplasia +   
cerebellofaciodental syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHOPS Syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome  
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  
Coffin-Siris syndrome +   
Coffin-Siris syndrome 9  
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency 1  
complex cortical dysplasia with other brain malformations +   
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 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Dandy-Walker 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 DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
developmental delay, dysmorphic facies, and brain anomalies  
An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)
developmental delay, hypotonia, and impaired language  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
Diets-Jongmans Syndrome  
diphthamide deficiency syndrome 2  
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 
Drachtman Weinblatt Sitarz Syndrome 
Dubowitz syndrome  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
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 
Faundes-Banka Syndrome  
Feingold Trainer Syndrome 
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fibrochondrogenesis +   
Filippi syndrome  
Fryns Macrocephaly 
Fryns Syndrome  
GAND syndrome  
geleophysic dysplasia +   
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
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 
Hao-Fountain Syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Helsmoortel-Van Der Aa syndrome  
hereditary sensory neuropathy +   
hereditary spastic paraplegia 23  
Holoprosencephaly 10  
Hypotonia, Seizures, and Precocious Puberty 
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
intellectual developmental disorder with autistic features and language delay, 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 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  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Koolen de Vries syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen-Like Syndromes +   
Leri Pleonosteosis 
Li-Campeau Syndrome  
Lichtenstein Syndrome 
Luo-Schoch-Yamamoto 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  
Martsolf Syndrome 2  
McDonough Syndrome 
McPherson Clemens Syndrome 
Median-Ulnar Nerve Communications 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
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 deficiency, seizures, and brain malformations  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
Myoectodermal Gonadal Dysgenesis Syndrome  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
NESCAV syndrome  
neural tube defect +   
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 cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies  
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 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 Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
neurodevelopmental disorder with eye movement abnormalities and ataxia  
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 HYPOTONIA AND DYSMORPHIC FACIES  
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, language delay, and skeletal defects with or without seizures  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NF1 Microduplication Syndrome 
NFIA-related disorder  
Nicolaides-Baraitser syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Oculoskeletodental Syndrome  
Ohdo syndrome, SBBYS variant  
omodysplasia 2  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteolysis Syndrome, Recessive 
Otoonychoperoneal Syndrome 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Palant Cleft Palate Syndrome 
Partington Anderson Syndrome 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
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 
Schisis Association 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schuurs-Hoeijmakers syndrome  
Seckel syndrome 1  
Seckel Syndrome 3 
septooptic dysplasia +   
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 
Sifrim-Hitz-Weiss syndrome  
Silver-Russell Syndrome 3  
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stolerman neurodevelopmental syndrome  
syndromic microphthalmia 3  
syndromic microphthalmia 6  
syndromic X-linked intellectual disability Turner type  
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia 11  
Thrombocytopenia 8  
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
Vulto-van Silfout-de Vries syndrome  
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann-Steiner syndrome  
Winter Harding Hyde Syndrome 
Xia-Gibbs syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: DEVDFB
Primary IDs: OMIM:620535
Alternate IDs: DOID:9003387
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/34112922/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/37134193/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/37962958/ "DO" "DO"

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