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Ontology Browser

Term:
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (DOID:9000271)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Facies +     
Macrocephaly +     
3p deletion syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
apraxia +   
Asparagine Synthetase Deficiency  
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Benign Familial Macrocephaly 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Bowen Syndrome 
Bowen-Conradi syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachytelephalangy Characteristic Facies Kallmann 
Brunoni Syndrome 
Burn-McKeown syndrome  
C syndrome  
cardiofaciocutaneous syndrome +   
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Childhood-Onset Chorea with Psychomotor Retardation  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
chromosome 17q11.2 deletion syndrome  
chromosome 1q21.1 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 +   
cold-induced sweating syndrome +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Combined Pituitary Hormone Deficiency, 1  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
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 Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere Leroy Adriaenssens 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, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
Diets-Jongmans Syndrome  
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 
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fryns Macrocephaly 
Fryns Syndrome  
fumarase deficiency  
geleophysic dysplasia +   
Genitopatellar Syndrome  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
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  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Harel-Yoon Syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Hemimegalencephaly +   
hereditary spastic paraplegia 23  
Holoprosencephaly 10 
Hypotonia, Seizures, and Precocious Puberty 
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
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 GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Kahrizi syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kniest Like Dysplasia Lethal  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen-Like Syndromes +   
Leri Pleonosteosis 
Lichtenstein Syndrome 
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
MacDermot Winter Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. (OMIM)
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Malocclusion and Short Stature 
Marfanoid Mental Retardation Syndrome, Autosomal  
McDonough Syndrome 
McPherson Clemens Syndrome 
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megarbane Syndrome 
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
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 
mitochondrial pyruvate carrier deficiency  
Mowat-Wilson syndrome  
Multiple Pterygium Syndrome, X-Linked 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Neuhauser Syndrome 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
non-syndromic X-linked intellectual disability 93  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Oculoskeletodental Syndrome  
Ogden syndrome  
Okur-Chung Neurodevelopmental Syndrome  
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 
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
PHGDH deficiency  
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Progeroid Facial Appearance with Hand Anomalies 
PSAT deficiency  
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
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 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
sepiapterin reductase deficiency  
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, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Silver-Russell Syndrome 3  
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
syndromic X-linked intellectual disability Turner type  
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
X-linked VACTERL association  
Zechi-Ceide Syndrome 
Zori Stalker Williams Syndrome 
ZTTK Syndrome  

Synonyms
Exact Synonyms: MDFPMR
Primary IDs: OMIM:617011
Alternate IDs: RDO:9001229

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