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Term:
Microcephaly Pontocerebellar Hypoplasia Dyskinesia (DOID:9007384)
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Parent Terms Term With Siblings Child Terms
Dyskinesias +     
microcephaly +     
3p- 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 
Asparagine Synthetase Deficiency  
Ataxia +   
Ataxia-Microcephaly-Cataract Syndrome 
Athetosis +   
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Baraitser Brett Piesowicz Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bobble-Head Doll Syndrome 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Catalepsy  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
choreatic disease +   
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
CK Syndrome  
Cohen syndrome  
cold-induced sweating syndrome +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drug-Induced Dyskinesia +   
Dubowitz syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
dystonia +   
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Familial Dyskinesia with Facial Myokymia  
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Feingold syndrome +   
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  
Hyperkinesis +   
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypokinesia +   
Hypospadias-Mental Retardation Syndrome 
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile-Onset Limb and Orofacial Dyskinesia  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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  
lingual-facial-buccal dyskinesia 
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 
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, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
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 IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 13  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mirror Movements 1  
Mirror Movements 2  
Mirror Movements 3  
Mirror Movements 4  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myoclonus +   
Neu-Laxova syndrome 1  
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  
Nijmegen Breakage Syndrome-Like Disorder  
Oculopalatocerebral Syndrome 
Olivopontocerebellar Atrophy 1 
Olivopontocerebellar Atrophy 3 
Olivopontocerebellar Atrophy II, Autosomal Recessive 
Olivopontocerebellar Atrophy V 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 
Paine Syndrome 
Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia 
Partington Anderson Syndrome 
PHGDH deficiency  
porencephaly +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Psychomotor Agitation +   
Raine Syndrome  
Rajab 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  
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 
spinocerebellar ataxia type 2  
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Atrophy with Pupillary Paralysis 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Stromme syndrome  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability type 10  
Synkinesis +  
Teebi Kaurah Syndrome 
Tics  
Total Anonychia with Microcephaly 
Tremor +   
Trichodental Syndrome 
Tsukahara Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Winship Viljoen Leary Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Primary IDs: MESH:C537543 ;   RDO:0003402

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