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Term:
Short Stature and Microcephaly with Genital Anomalies (DOID:9004567)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Dwarfism +     
microcephaly +     
3-M syndrome +   
3p deletion syndrome 
Aarskog syndrome +   
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
achondroplasia +   
acromesomelic dysplasia +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Allanson Pantzar McLeod Syndrome +   
Alopecia Contractures Dwarfism Mental Retardation 
Alport syndrome +   
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amish Lethal Microcephaly  
Anauxetic Dysplasia +   
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis  
Aphalangia Syndactyly Microcephaly 
Asparagine Synthetase Deficiency  
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
Ataxia-Microcephaly-Cataract Syndrome 
Atelosteogenesis Type 3  
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
autosomal dominant microcephaly +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baetz-Greenwalt syndrome 
Bangstad Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bifid or Double Ureter 
Bird Headed Dwarfism Montreal Type 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Brachydactylous Dwarfism Mseleni Type 
Brachydactyly, Type A2, With Microcephaly 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Branchial Arch Syndrome X-Linked 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Calabro Syndrome 
CAMFAK Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac-Urogenital Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Chondrodysplasia Calcificans Metaphysealis 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate, cardiac defects, and intellectual disabillity  
Cockayne syndrome +   
Cohen syndrome  
congenital hypothyroidism +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
De Sanctis-Cacchione Syndrome  
Desbuquois dysplasia +   
diastrophic dysplasia +   
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
disorder of sexual development +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
DK Phocomelia Syndrome 
Dubowitz syndrome  
Duker Weiss Siber syndrome 
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyssegmental Dysplasia with Glaucoma 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epispadias +   
Feingold syndrome +   
fibrochondrogenesis +   
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
Fraser syndrome +   
Fused Kidney  
Galloway-Mowat syndrome +   
Genitopatellar Syndrome  
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
geroderma osteodysplasticum  
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Hormone Insensitivity with Immune Dysregulation 1  
Growth Hormone Insensitivity with Immune Dysregulation 2  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
hypochondroplasia  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypospadias +   
Hypospadias-Mental Retardation Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
IMAGe syndrome  
IMAGEI Syndrome  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
intellectual developmental disorder with short stature and behavioral abnormalities  
isolated growth hormone deficiency +   
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
Kenny-Caffey syndrome type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
Lambotte Syndrome 
Laplane Fontaine Lagardere Syndrome 
Laron syndrome  
Lessel-Kubisch Syndrome  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
linear skin defects with multiple congenital anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lissencephaly, X-Linked, 2  
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
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, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
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 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mollica Pavone Antener Syndrome 
Mowat-Wilson syndrome  
mulibrey nanism  
Multicystic Dysplastic Kidney +   
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Myotubular Myopathy with Abnormal Genital Development 
Nabais Sa-de Vries Syndrome, Type 1  
Nephrosis Deafness Urinary Tract Digital Malformation 
Neu-Laxova syndrome 1  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
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 Progressive Microcephaly, Spasticity, and Brain Anomalies  
Nievergelt Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Omphalocele Exstrophy Imperforate Anus 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
parastremmatic dwarfism  
Partington Anderson Syndrome 
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
popliteal pterygium syndrome +   
porencephaly +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Proportionate Dwarfism, with Hip Dislocation 
Proud Syndrome  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudodiastrophic Dysplasia 
Pyelectasis  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
rapadilino syndrome  
renal agenesis +   
Renal Dysplasia - Limb Defects Syndrome 
Renal, Genital, and Middle Ear Anomalies 
Retrocaval Ureter 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Ruvalcaba Syndrome 
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel Like Syndrome Type Buebel 
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  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature-Obesity Syndrome 
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE  
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 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda, Toledo Type 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Stromme syndrome  
Structural Heart Defects and Renal Anomalies Syndrome  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Synovial Chondromatosis, Familial, with Dwarfism 
Teebi Kaurah Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Urinary Fistula +  
Urinary Tract Abnormalities +   
Uterine Anomalies 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Webb-Dattani Syndrome  
Weill-Marchesani syndrome +   
Winship Viljoen Leary Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: SSMGA
Primary IDs: OMIM:618702

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