Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Brachytelephalangy Characteristic Facies Kallmann (DOID:9002617)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
Facies +     
Kallmann syndrome +     
22q11 Deletion Syndrome +   
3MC syndrome +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Alazami Syndrome  
Alazami-Yuan Syndrome  
ALFADHEL SYNDROME  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
AMME complex 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Arthrogryposis Multiplex Congenita Whistling Face 
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Boomerang dysplasia  
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
Branchial Cleft Anomalies 
Brunoni Syndrome 
Burn-McKeown syndrome  
C syndrome  
Calvarial Hyperostosis +   
Camptodactyly Syndrome Guadalajara Type 2 
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebellofaciodental syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHITAYAT SYNDROME  
CHOPS Syndrome  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
chromosome 8q21.11 deletion 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  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
CODAS syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
combined oxidative phosphorylation deficiency 2  
Combined Pituitary Hormone Deficiency 1  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
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 limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital myopathy 17  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
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 
Curly Hair-Acral Keratoderma-Caries Syndrome 
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  
Desbuquois dysplasia +   
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
developmental delay, dysmorphic facies, and brain anomalies  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
Diaphanospondylodysostosis  
Diets-Jongmans Syndrome  
diphthamide deficiency syndrome 1  
diphthamide deficiency syndrome 2  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome  
distal arthrogryposis type 6 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Dubowitz syndrome  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
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  
fetal encasement syndrome  
FG Syndrome 5 
fibrochondrogenesis +   
Filippi syndrome  
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontonasal dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome  
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Granddad Syndrome 
Grant 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 
Hall Riggs Mental Retardation Syndrome 
Hanhart Syndrome 
Hao-Fountain Syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
hereditary spastic paraplegia 23  
holoprosencephaly +   
Holoprosencephaly 10  
Humeroradial Synostosis with Craniofacial Anomalies 
Hypertelorism +   
hypogonadotropic hypogonadism 1 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
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 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 
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kahrizi syndrome  
Kallmann Syndrome 5  
Kallmann Syndrome 6  
Kapur Toriello Syndrome  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen-like syndrome B3GAT3 type  
Larsen-Like Syndromes +   
Leichtman Wood Rohn Syndrome 
Leri Pleonosteosis 
Li-Campeau Syndrome  
Lichtenstein Syndrome 
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marfanoid Mental Retardation Syndrome, Autosomal  
Marshall syndrome +   
Marshall-Smith syndrome  
Martsolf Syndrome 2  
Maxillofacial Abnormalities +   
McDonough Syndrome 
McPherson Clemens Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
microcephaly +   
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, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Mullegama-Klein-Martinez syndrome  
Multiple Pterygium Syndrome, X-Linked 
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myoectodermal Gonadal Dysgenesis Syndrome  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nablus Mask-Like Facial Syndrome 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
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 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, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE 
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, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES 
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Oculoskeletodental Syndrome  
Ohdo syndrome, SBBYS variant  
omodysplasia 2  
Orbital Margin, Hypoplasia of 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Osteolysis Syndrome, Recessive 
Otofacioosseous-Gonadal Syndrome 
Otoonychoperoneal Syndrome 
otopalatodigital syndrome spectrum disorder +   
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Partington Anderson Syndrome 
Pashayan Syndrome 
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Prieto syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Reardon Hall Slaney syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Roifman-Chitayat Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel Giedion syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel Syndrome 3 
Sener Syndrome 
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
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  
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Shprintzen Omphalocele Syndrome 
Silver-Russell syndrome +   
Silver-Russell Syndrome 3  
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
Sonoda Syndrome 
Spastic Paraplegia with Kallmann Syndrome 
Spinocerebellar Ataxia with Dysmorphism 
Splenogonadal Fusion with Limb Defects and Micrognathia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Spondyloocular Syndrome, Autosomal Recessive  
Stolerman neurodevelopmental syndrome  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
Telecanthus +   
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 2  
Tetrasomy X 
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia 11  
Thrombocytopenia 8  
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Turnpenny-Fry Syndrome  
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White Forelock with Malformations 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann-Steiner syndrome  
Winter Harding Hyde Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Brachytelephalangy with Characteristic Facies and Kallmann Syndrome ;   Characteristic craniofacial appearance and brachytelephalangy
Primary IDs: MESH:C537101
Alternate IDs: MIM:113480

paths to the root