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Term:
syndromic X-linked intellectual disability Shrimpton type (DOID:0060813)
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Parent Terms Term With Siblings Child Terms
3p deletion syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Armfield syndrome  
Arts syndrome  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Basilicata-Akhtar syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cohen syndrome  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
deafness-intellectual disability, Martin-Probst type syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
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 
Feingold syndrome +   
female-restricted syndromic X-linked intellectual disability 99  
Filippi syndrome  
Forsythe-Wakeling Syndrome 
Galloway-Mowat syndrome +   
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Syndrome 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hoyeraal Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypospadias-Mental Retardation Syndrome 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kat6a Syndrome  
Kaufman oculocerebrofacial syndrome  
Lambotte Syndrome 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
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 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, X-Linked, Syndromic 33  
Mental Retardation, X-Linked, Syndromic, Bain Type  
Mental Retardation, X-Linked, Syndromic, Ube2a-Related  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
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 +   
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 
Miles-Carpenter syndrome +   
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mowat-Wilson syndrome  
Mullegama-Klein-Martinez syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Nabais Sa-de Vries Syndrome, Type 1  
Neu-Laxova syndrome 1  
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  
Oculopalatocerebral Syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paganini-Miozzo syndrome  
Paine Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
PHGDH deficiency  
porencephaly +   
Prieto syndrome 
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Raynaud-Claes syndrome  
Renpenning syndrome  
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  
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 
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 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Stocco Dos Santos type X-linked intellectual disability  
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton type 
A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disability type 10  
syndromic X-linked mental retardation 35  
syndromic X-linked mental retardation Hough type  
Teebi Kaurah Syndrome 
Tonne-Kalscheuer syndrome  
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tsukahara Syndrome  
Van Esch-O'Driscoll syndrome  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Webb-Dattani Syndrome  
Wilson-Turner syndrome  
Winship Viljoen Leary Syndrome 
X-linked Aarskog syndrome  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: MRXS9 ;   mental retardation, X-linked, syndromic 9
Primary IDs: MESH:C567474 ;   RDO:0015537
Alternate IDs: OMIM:300709
Xrefs: ORDO:85324
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10331611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797443 "DO"

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