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Ontology Browser

Term:
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (DOID:9007846)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
epilepsy +     
Facies +     
lissencephaly +     
microcephaly +     
3MC syndrome 3  
3p deletion syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Amish Lethal Microcephaly  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant mental retardation 20  
autosomal dominant mental retardation 49  
Autosomal Dominant Mental Retardation 60  
autosomal dominant microcephaly +   
autosomal recessive spinocerebellar ataxia 12  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Type A2, With Microcephaly 
Brachytelephalangy Characteristic Facies Kallmann 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
C syndrome  
CAMFAK Syndrome 
cardiofaciocutaneous syndrome +   
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
ceft palate, cardiac defects, and intellectual disabillity  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hypoplasia +   
Cerebellofaciodental Syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 3q29 microdeletion syndrome 
chromosome 5p13 duplication syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
CK Syndrome  
Classical Lissencephalies and Subcortical Band Heterotopias +   
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cobblestone Lissencephaly +   
Coffin Syndrome 1 
Coffin-Siris syndrome +   
Cohen syndrome  
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
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 Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
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 syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
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 
Drug Resistant Epilepsy +   
Dubowitz syndrome  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Early-Onset Epilepsy, Vitamin B6-Dependent  
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 
electroclinical syndrome +   
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
FACES Syndrome 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
Febrile Seizures +   
Feingold syndrome +   
Feingold Trainer Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Frontotemporal Pachygyria 
Fryns Macrocephaly 
Fryns Syndrome 
Galloway-Mowat syndrome +   
geleophysic dysplasia +   
Generalized Epilepsy +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glycosylphosphatidylinositol Deficiency +   
GOMBO Syndrome 
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  
Grubben de Cock Borghgraef Syndrome 
Gurrieri Sammito Bellussi Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hereditary spastic paraplegia 23  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Holoprosencephaly 10 
Hot Water Epilepsy +  
Hoyeraal Hreidarsson Syndrome  
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Hypospadias-Mental Retardation Syndrome 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Seizures, and Precocious Puberty 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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 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 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 
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kahrizi syndrome  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kifafa Seizure Disorder 
Kohlschutter-Tonz syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Lamb-Shaffer Syndrome  
Lambotte Syndrome 
Landau-Kleffner syndrome  
Larsen-Like Syndromes +   
Leri Pleonosteosis 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Lichtenstein Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 10 
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 5  
Lissencephaly 6, with Microcephaly  
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA  
Lissencephaly 8  
Lissencephaly 9 with Complex Brainstem Malformation  
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
Luscan-Lumish syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
MacDermot Winter Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Mental Retardation Syndrome, Autosomal  
Massa Casaer Ceulemans Syndrome 
McDonough Syndrome 
McPherson Clemens Syndrome 
MEHMO syndrome  
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller-Dieker lissencephaly syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Pterygium Syndrome, X-Linked 
Myoclonic Epilepsies +   
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Neu-Laxova syndrome 1  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL 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 EPILEPSY, SPASTICITY, AND BRAIN ATROPHY  
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, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
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 SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen Breakage Syndrome-Like Disorder  
Non-Lissencephalic Cortical Dysplasia 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Norman-Roberts syndrome  
Obesity, Hyperphagia, and Developmental Delay  
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
Ogden syndrome  
Oliver-McFarlane syndrome  
Omodysplasia 2  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome, Recessive 
Osteosclerotic Metaphyseal Dysplasia  
Otoonychoperoneal Syndrome 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
An autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development.
Paine Syndrome 
Palant Cleft Palate Syndrome 
Partial Lissencephaly 
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
porencephaly +   
primary microcephaly +   
Progeroid Facial Appearance with Hand Anomalies 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Refsum Disease with Increased Pipecolic Acidemia  
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Retinal Degeneration and Epilepsy 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome 
Rud Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silengo Lerone Pelizza Syndrome 
Snijders Blok-Campeau Syndrome  
Snijders Blok-Fisher Syndrome  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
status epilepticus +   
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic microphthalmia 13  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Teebi Kaurah Syndrome 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Verheij Syndrome  
VERVERI-BRADY SYNDROME  
visual epilepsy +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
WEBB-DATTANI SYNDROME  
WEISS-KRUSZKA SYNDROME  
White Forelock with Malformations 
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wittwer Syndrome  
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: PAMDDFS
Primary IDs: OMIM:618737
Definition Sources: OMIM:618737

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