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Agenesis of Corpus Callosum +
Aicardi-Goutieres syndrome +
Al Gazali Sabrinathan Nair Syndrome
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Athabaskan brainstem dysgenesis syndrome
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Beaulieu-Boycott-Innes Syndrome
Behrens Baumann Dust Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachycephaly, trichomegaly, and developmental delay
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
BRAIN MALFORMATION RENAL SYNDROME
Central Nervous System Cysts +
Central Nervous System Vascular Malformations +
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebellar Degeneration-Related Autoantigen 3
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellar hypoplasia + A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebellofaciodental syndrome
Cerebelloparenchymal Disorder VI
Chitayat Moore Del Bigio Syndrome
Chitty Hall Webb Syndrome
chromosome 13q14 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 3q29 microdeletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
complex cortical dysplasia with other brain malformations +
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
Developmental Delay with or without Dysmorphic Facies and Autism
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
developmental delay, dysmorphic facies, and brain anomalies
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Developmental Delay, Language Impairment, and Ocular Abnormalities
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
diphthamide deficiency syndrome +
Drachtman Weinblatt Sitarz Syndrome
Dykes Markes Harper Syndrome
Dystonia with Cerebellar Atrophy
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
Forsythe-Wakeling Syndrome
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glycosylphosphatidylinositol Biosynthesis Defect 15
Glycosylphosphatidylinositol Biosynthesis Defect 25
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
hereditary sensory neuropathy +
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
hypermethioninemia due to adenosine kinase deficiency
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Immunodeficiency 78 with Autoimmunity and Developmental Delay
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
KOHLSCHUTTER-TONZ SYNDROME-LIKE
L-2-hydroxyglutaric aciduria
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Median-Ulnar Nerve Communications
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, seizures, and developmental delay
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mosaic Variegated Aneuploidy Syndrome 5
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL 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 GROSS MOTOR AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Non-Lissencephalic Cortical Dysplasia
Obesity, Hyperphagia, and Developmental Delay
Oliver-McFarlane syndrome
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
osteosclerotic metaphyseal dysplasia
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Paraneoplastic Cerebellar Degeneration
Partington Anderson Syndrome
Periventricular Nodular Heterotopia 7
pontocerebellar hypoplasia +
Porencephaly Cerebellar Hypoplasia Malformations
PORETTI-BOLTSHAUSER SYNDROME
primary cerebellar degeneration +
Rajab Interstitial Lung Disease with Brain Calcifications +
Refsum Disease with Increased Pipecolic Acidemia
Roifman-Chitayat Syndrome
Short Stature, Developmental Delay, and Congenital Heart Defects
SHORT STATURE-MICROGNATHIA SYNDROME
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Snijders Blok-Fisher Syndrome
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
Subacute Cerebellar Degeneration
succinic semialdehyde dehydrogenase deficiency
syndromic microphthalmia 3
syndromic microphthalmia 6
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
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