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Term:
syndromic microphthalmia 13 (DOID:0111811)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3p deletion syndrome 
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Achromatopsia Incomplete, X-Linked 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Aicardi syndrome 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
Amish Lethal Microcephaly  
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Aphalangia Syndactyly Microcephaly 
Arthrogryposis, X-Linked, Type V 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bornholm Eye Disease 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiofacioneurodevelopmental Syndrome  
cataract 40  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Choroideremia +   
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
CK syndrome  
Cleft Palate with Ankyloglossia  
cleft palate, cardiac defects, and intellectual disabillity  
Cohen syndrome  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dilated Cardiomyopathy 3A  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Feingold syndrome +   
Fetal Akinesia Syndrome, X-Linked 
Filippi syndrome  
Forsythe-Wakeling Syndrome 
Galloway-Mowat syndrome +   
glycogen storage disease VIII 
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hodgkin Disease, X-Linked Pseudoautosomal 
Hoyeraal Hreidarsson Syndrome  
Hydrocephalus with Cerebellar Agenesis 
hypertelorism, microtia, facial clefting syndrome 
Hypertrichosis Congenital Generalized X-Linked 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias-Mental Retardation Syndrome 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
Lambotte Syndrome 
Leigh Syndrome, X-Linked  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Lowry Wood Syndrome  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
McLeod syndrome  
Meester-Loeys syndrome  
MEHMO syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
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 Microcornea Syndrome Seemanova Type 
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 +   
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, 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 
Midline Defects, X-Linked 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
Nabais Sa-de Vries Syndrome, Type 1  
NEMO Mutation with Immunodeficiency 
Neu-Laxova syndrome 1  
Neural Tube Defects X-Linked 
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
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 MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Nijmegen Breakage Syndrome-Like Disorder  
Nystagmus 5, Infantile Periodic Alternating 
Oculopalatocerebral Syndrome 
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
ovarian dysgenesis 2 +   
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Partington Anderson Syndrome 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
PHGDH deficiency  
porencephaly +   
primary microcephaly +   
primary ovarian insufficiency 1  
primary ovarian insufficiency 4 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
PSAT deficiency  
pseudo-TORCH syndrome 1  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation 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  
Selective Tooth Agenesis, X-Linked, 1  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spina Bifida, X-Linked 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
split hand-foot malformation 2 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondylometaphyseal Dysplasia, X-Linked 
Stromme syndrome  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 1  
syndromic microphthalmia 10 
syndromic microphthalmia 11  
syndromic microphthalmia 12  
syndromic microphthalmia 13  
A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28. (DO)
syndromic microphthalmia 14  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic microphthalmia 9  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
TARP syndrome  
Teebi Kaurah Syndrome 
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tsukahara Syndrome  
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
Von Willebrand Disease, X-Linked Form 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Webb-Dattani Syndrome  
Wells Jankovic Syndrome 
Winship Viljoen Leary Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Vesicoureteral Reflux 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: MAINE MICROPHTHALMOS ;   MCOPS13 ;   X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ;   colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation
Primary IDs: OMIM:300915
Xrefs: ORDO:431140
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24993872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4998085 "DO"

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