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Term:
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment (DOID:9004467)
Annotations: Rat: (1) Mouse: (1) Human: (10) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1) Black Rat: (1)
Parent Terms Term With Siblings Child Terms
Facies +     
microcephaly +     
Neurodevelopmental Disorders +     
primary cerebellar degeneration +     
Vision Disorders +     
3p deletion syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
ALFADHEL SYNDROME  
Alice in Wonderland Syndrome 
Alkuraya-Kucinskas syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
amblyopia +   
Amish Lethal Microcephaly  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME  
Arboleda-Tham syndrome  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Attention Deficit and Disruptive Behavior Disorders +   
Au-Kline Syndrome  
autosomal dominant microcephaly 
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Baetz-Greenwalt Syndrome 
Baker-Gordon Syndrome  
Baraitser-Winter syndrome +   
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
blindness +   
Boomerang dysplasia  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
brachycephaly, trichomegaly, and developmental delay  
Brachydactyly, Type A2, With Microcephaly 
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +   
Branchial Arch Syndrome X-Linked 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
BURATTI-HAREL SYNDROME  
Burn-McKeown syndrome  
C syndrome  
CAMFAK Syndrome 
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEBALID Syndrome  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar atrophy, visual impairment, and psychomotor retardation  
cerebellofaciodental syndrome  
Cerebral Visual Impairment and Intellectual Disability  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
Child Behavior Disorders +   
Childhood Schizophrenia  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
CHOPS Syndrome  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity  
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
chromosome 5p13 duplication syndrome 
Chromosome Xq27.3-q28 Duplication Syndrome 
Chromosome Xq28 Duplication Syndrome  
CK syndrome  
Clark-Baraitser syndrome  
cleft palate, cardiac defects, and intellectual disability  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Coffin-Siris syndrome +   
Cohen syndrome  
cold-induced sweating syndrome +   
combined or isolated pituitary hormone deficiency 1  
communication disorder +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
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 Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital myopathy 17  
Corneal Cerebellar Syndrome 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Creutzfeldt-Jakob Disease, Heidenhain Variant 
Crumpled Helices and Small Mouth 
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome  
Deafness-Craniofacial Syndrome 
DEGCAGS Syndrome  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
Der Kaloustian Mcintosh Silver Syndrome 
developmental coordination disorder  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY  
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
developmental delay, dysmorphic facies, and brain anomalies  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
Developmental Disabilities +   
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
Diets-Jongmans Syndrome  
diphthamide deficiency syndrome 2  
Diplopia 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome  
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Dubowitz syndrome  
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
enhanced S-cone syndrome  
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Faundes-Banka Syndrome  
Feingold syndrome +   
Feingold Trainer Syndrome 
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fibrochondrogenesis +   
FICUS syndrome  
Filippi syndrome  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
Forsythe-Wakeling Syndrome 
Friedreich ataxia +   
Fryns Macrocephaly 
Fryns Syndrome  
GABRIELE-DE VRIES SYNDROME  
Galloway-Mowat syndrome +   
geleophysic dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GOMBO Syndrome 
Granddad Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
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 
Halal Syndrome 
Halperin-Birk syndrome  
Hao-Fountain Syndrome  
Harel-Yoon syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
Hemianopsia 
Hengel-Maroofian-Schols syndrome  
hereditary spastic paraplegia 23  
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
Holoprosencephaly 10  
Hoyeraal-Hreidarsson Syndrome  
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypomyelinating leukodystrophy 8  
Hypospadias-Mental Retardation Syndrome 
Imagawa-Matsumoto Syndrome  
immunodeficiency 94  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
infantile cerebellar-retinal degeneration  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
Intellectual Developmental Disorder with Autism and Dysmorphic Facies  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
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 PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
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  
intellectual disability +   
Iris Dysplasia Hypertelorism Deafness 
JABERI-ELAHI SYNDROME  
Jeffries-Lakhani Neurodevelopmental Syndrome  
Jorgenson Lenz Syndrome 
Juberg-Hayward Syndrome  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome  
Kaufman oculocerebrofacial syndrome  
Kaya-Barakat-Masson Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Lambotte Syndrome 
Larsen-Like Syndromes +   
learning disability +   
Leri Pleonosteosis 
LESSEL-KREIENKAMP SYNDROME  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukodystrophy and cerebellar atrophy  
Li-Campeau Syndrome  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Li-Takada-Miyake syndrome  
Liang-Wang Syndrome  
Lichtenstein Syndrome 
linear skin defects with multiple congenital anomalies 2  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lopes-Maciel-Rodan Syndrome  
Low Vision 
Lowry Wood Syndrome  
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
MacDermot Winter Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
macrocephaly-autism syndrome  
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
MARBACH-RUSTAD PROGEROID SYNDROME  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Mental Retardation Syndrome, Autosomal  
Martsolf Syndrome 2  
McDonough Syndrome 
McPherson Clemens Syndrome 
MEHMO syndrome  
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
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 Cervical Spine Fusion Anomalies 
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 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
mosaic variegated aneuploidy syndrome +   
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
Multiple Pterygium Syndrome, X-Linked 
mutism  
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND  
myoclonic cerebellar dyssynergia +  
Myoectodermal Gonadal Dysgenesis Syndrome  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
nerve fibre bundle defect 
Neu-Laxova syndrome 1  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
Neurodevelopmental disorder with ataxia and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1  
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, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES  
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
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 HEARING LOSS AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
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 HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, POOR GROWTH, DYSMORPHIC FACIES, AND AGAMMAGLOBULINEMIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia  
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, Cerebral Atrophy, and Visual Impairment  
An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13.
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, ABSENT SPEECH, PROGRESSIVE ATAXIA, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES  
Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
neurodevelopmental disorder with seizures and gingival overgrowth  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY  
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
neurodevelopmental disorder with speech impairment and dysmorphic facies  
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH THIN CORPUS CALLOSUM, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH WHITE MATTER ABNORMALITIES AND GAIT DISTURBANCE  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES  
neuronal ceroid lipofuscinosis 15  
Neuroocular syndrome +   
NF1 Microduplication Syndrome 
Nicolaides-Baraitser syndrome  
night blindness +   
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen Breakage Syndrome-Like Disorder  
Nil-Deshwan neurodevelopmental syndrome  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
Ohdo syndrome, SBBYS variant  
Okur-Chung Neurodevelopmental Syndrome  
olivopontocerebellar atrophy +   
omodysplasia 2  
Oroacral Syndrome, Verloes-Koulischer Type 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome, Recessive 
OTOFACIAL NEURODEVELOPMENTAL SYNDROME  
Otoonychoperoneal Syndrome 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
Palant Cleft Palate Syndrome 
Parenti-Mignot Neurodevelopmental Syndrome  
Partington Anderson Syndrome 
PEHO-like syndrome  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
pervasive developmental disorder +   
Pfeiffer Palm Teller Syndrome 
PHGDH deficiency  
Photophobia +   
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pilarowski-Bjornsson Syndrome  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Popov-Chang Syndrome 
porencephaly +   
Posterior Column Ataxia 
primary microcephaly +   
Progeroid Facial Appearance with Hand Anomalies 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramos Arroyo Clark Syndrome 
Reactive Attachment Disorder  
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
ReNU syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome  
Rudiger Syndrome 
Ruvalcaba Syndrome 
Sammartino De Crecchio Syndrome 
Say Syndrome 
Say-Barber-Miller Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
scotoma +   
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  
separation anxiety disorder  
severe combined immunodeficiency 124  
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, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
short stature, hearing loss, retinitis pigmentosa, and distinctive facies  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Shukla-Vernon syndrome  
Siegler Brewer Carey Syndrome 
Silengo Lerone Pelizza Syndrome 
Silver-Russell Syndrome 3  
Skraban-Deardorff Syndrome  
Snijders Blok-Campeau Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Spatial Visualization, Aptitude For 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
Stolerman neurodevelopmental syndrome  
Stromme syndrome  
Susac Syndrome 
syndromic microphthalmia 13  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
TAN-ALMURSHEDI SYNDROME  
Tayoun-Maawali syndrome  
Teebi Kaurah Syndrome 
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1  
Tessadori-van Haaften Neurodevelopmental Syndrome +   
Thakker-Donnai Syndrome  
Thomas Jewett Raines Syndrome 
Thrombocytopenia 11  
Thrombocytopenia 8  
tic disorder +   
TIMES Syndrome  
Total Anonychia with Microcephaly 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type III  
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Ventriculomegaly +   
Verheij Syndrome  
Ververi-Brady syndrome 1  
visual impairment and progressive phthisis bulbi  
Warburg micro syndrome +   
Webb-Dattani Syndrome  
White Forelock with Malformations 
WHITE-KERNOHAN SYNDROME  
Wiedemann-Steiner syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Yuan-Harel-Lupski Syndrome  
Zaki syndrome  
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: DOHH RELATED NEURODEVELOPMENTAL DISORDER;  DOHH-RELATED CONDITION;  NEDMVIC
Primary IDs: MIM:620066
Definition Sources: MIM:620066

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