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3-methylglutaconic aciduria type 3
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agenesis of the corpus callosum with peripheral neuropathy
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amish Lethal Microcephaly
Amyotrophic Dystonic Paraplegia
Aphalangia Syndactyly Microcephaly
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
autosomal recessive intellectual developmental disorder 1
autosomal recessive intellectual developmental disorder 10/20
autosomal recessive intellectual developmental disorder 11
autosomal recessive intellectual developmental disorder 12
autosomal recessive intellectual developmental disorder 13
autosomal recessive intellectual developmental disorder 14
autosomal recessive intellectual developmental disorder 16
autosomal recessive intellectual developmental disorder 18
autosomal recessive intellectual developmental disorder 2
autosomal recessive intellectual developmental disorder 23
autosomal recessive intellectual developmental disorder 24
autosomal recessive intellectual developmental disorder 25
autosomal recessive intellectual developmental disorder 27
autosomal recessive intellectual developmental disorder 28
autosomal recessive intellectual developmental disorder 29
autosomal recessive intellectual developmental disorder 3
autosomal recessive intellectual developmental disorder 30
autosomal recessive intellectual developmental disorder 31
autosomal recessive intellectual developmental disorder 33
autosomal recessive intellectual developmental disorder 34
autosomal recessive intellectual developmental disorder 35
autosomal recessive intellectual developmental disorder 37
autosomal recessive intellectual developmental disorder 38
autosomal recessive intellectual developmental disorder 39
autosomal recessive intellectual developmental disorder 4
autosomal recessive intellectual developmental disorder 40
autosomal recessive intellectual developmental disorder 41
autosomal recessive intellectual developmental disorder 43
autosomal recessive intellectual developmental disorder 44
autosomal recessive intellectual developmental disorder 45
autosomal recessive intellectual developmental disorder 46
autosomal recessive intellectual developmental disorder 47
autosomal recessive intellectual developmental disorder 48
autosomal recessive intellectual developmental disorder 5
autosomal recessive intellectual developmental disorder 50
autosomal recessive intellectual developmental disorder 51
autosomal recessive intellectual developmental disorder 52
autosomal recessive intellectual developmental disorder 54
autosomal recessive intellectual developmental disorder 56
autosomal recessive intellectual developmental disorder 57
autosomal recessive intellectual developmental disorder 58
autosomal recessive intellectual developmental disorder 59
autosomal recessive intellectual developmental disorder 6
autosomal recessive intellectual developmental disorder 60
autosomal recessive intellectual developmental disorder 61
autosomal recessive intellectual developmental disorder 63
autosomal recessive intellectual developmental disorder 64
autosomal recessive intellectual developmental disorder 65
autosomal recessive intellectual developmental disorder 66
autosomal recessive intellectual developmental disorder 67
autosomal recessive intellectual developmental disorder 68
autosomal recessive intellectual developmental disorder 69
autosomal recessive intellectual developmental disorder 7
autosomal recessive intellectual developmental disorder 70
autosomal recessive intellectual developmental disorder 71
autosomal recessive intellectual developmental disorder 72
autosomal recessive intellectual developmental disorder 73
autosomal recessive intellectual developmental disorder 74
autosomal recessive intellectual developmental disorder 75
autosomal recessive intellectual developmental disorder 76
autosomal recessive intellectual developmental disorder 77
Autosomal Recessive Intellectual Developmental Disorder 78
Autosomal Recessive Intellectual Developmental Disorder 79
Autosomal Recessive Intellectual Developmental Disorder 80
Autosomal Recessive Intellectual Developmental Disorder 81
autosomal recessive intellectual developmental disorder 82
autosomal recessive intellectual developmental disorder 9/26
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Ben Ari Shuper Mimouni Syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
Braddock Carey Syndrome +
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Calloso-Genital Dysplasia
Cardiofacioneurodevelopmental Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
Chudley-Mccullough syndrome
cleft palate, cardiac defects, and intellectual disabillity
combined oxidative phosphorylation deficiency 2
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Curatolo Cilio Pessagno Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Duker Weiss Siber syndrome
early onset progressive encephalopathy with brain atrophy and thin corpus callosum
early-onset dystonia and/or spastic paraplegia
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Faye-Petersen Ward Carey Syndrome
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
glycosylphosphatidylinositol biosynthesis defect 16
Hereditary Spastic Paralysis, Infantile Onset Ascending
hereditary spastic paraplegia 10
hereditary spastic paraplegia 11
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 16
hereditary spastic paraplegia 17
hereditary spastic paraplegia 18
hereditary spastic paraplegia 19
hereditary spastic paraplegia 2
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 29
hereditary spastic paraplegia 30 +
hereditary spastic paraplegia 31
hereditary spastic paraplegia 32
hereditary spastic paraplegia 33
hereditary spastic paraplegia 34
hereditary spastic paraplegia 35
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 39
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 59
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 6
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 70
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 78
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 79B
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 81
hereditary spastic paraplegia 82
hereditary spastic paraplegia 83
hereditary spastic paraplegia 84
hereditary spastic paraplegia 85
hereditary spastic paraplegia 86
hereditary spastic paraplegia 87
hereditary spastic paraplegia 88
hereditary spastic paraplegia 89
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Hoyeraal Hreidarsson Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
Hypospadias-Mental Retardation Syndrome
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia with psychomotor retardation and characteristic facies-3
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder, Autosomal Recessive 19
Kaufman oculocerebrofacial syndrome
Kozlowski Ouvrier Syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
Lissencephaly and Agenesis of Corpus Callosum
MacDermot Winter Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
Mental Retardation Spasticity Ectrodactyly
Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 53
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 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 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
Microphthalmia and Mental Deficiency
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Nabais Sa-de Vries Syndrome, Type 1
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
neurodevelopmental disorder with language delay and seizures
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
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, 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
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
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 NEONATAL CHOLESTASIS
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
neurodevelopmental disorder with poor growth and behavioral abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
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 spastic paraplegia and microcephaly
neurodevelopmental disorder with spasticity and poor growth
Nijmegen Breakage Syndrome-Like Disorder
Oculopalatocerebral Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partial Agenesis of Corpus Callosum +
Partington Anderson Syndrome
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Rajab Interstitial Lung Disease with Brain Calcifications 1
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Roy Maroteaux Kremp Syndrome
Sammartino De Crecchio Syndrome
Say-Barber-Miller Syndrome
Schimke X-Linked Mental Retardation Syndrome
Secretory Diarrhea, Myopathy, and Deafness
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, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Silengo Lerone Pelizza Syndrome
Spastic Diplegia Infantile Type
Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia
Spastic Paraplegia 92, Autosomal Recessive
Spastic Paraplegia 93, Autosomal Recessive
Spastic Paraplegia and Evans Syndrome
Spastic Paraplegia Type 5B, Recessive
Spastic Paraplegia with Associated Extrapyramidal Signs
spastic paraplegia with deafness
Spastic Paraplegia with Kallmann Syndrome
Spastic Paraplegia with Myoclonic Epilepsy
Spastic Paraplegia with Neuropathy and Poikiloderma
Spastic Paraplegia with Precocious Puberty
Spastic Paraplegia, Epilepsy, Mental Retardation
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
Spastic Paraplegia, Optic Atrophy, and Dementia
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
spastic tetraplegia, thin corpus callosum, and progressive microcephaly An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spondyloepimetaphyseal dysplasia, Genevieve-type
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Total Anonychia with Microcephaly
Volcke Soekarman Syndrome
Warburton Anyane Yeboa Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
Zerres Rietschel Majewski Syndrome
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