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Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
Basel-Vanagaite-Smirin-Yosef 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
Cardiofacioneurodevelopmental Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
cleft palate, cardiac defects, and intellectual disabillity
cold-induced sweating syndrome +
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
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
Drug-Induced Dyskinesia +
Dyskinesia with Orofacial Involvement +
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Familial Infantile Convulsions and Paroxysmal Choreoathetosis
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
Hersh Podruch Weisskopf 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
Infantile-Onset Limb and Orofacial Dyskinesia
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Kaufman oculocerebrofacial syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
lingual-facial-buccal dyskinesia
MacDermot Winter Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
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 Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
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 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 Progressive Microcephaly, Spasticity, and Brain Anomalies
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
Nijmegen Breakage Syndrome-Like Disorder
Oculopalatocerebral Syndrome
Olivopontocerebellar Atrophy 1
Olivopontocerebellar Atrophy 3
Olivopontocerebellar Atrophy II, Autosomal Recessive
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia
Partington Anderson Syndrome
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Rajab Interstitial Lung Disease with Brain Calcifications 1
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, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
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 17
spinocerebellar ataxia type 2
Spinocerebellar Atrophy with Pupillary Paralysis
spondyloepimetaphyseal dysplasia, Genevieve-type
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 type 10
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Total Anonychia with Microcephaly
Warburton Anyane Yeboa Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
X-linked spinocerebellar ataxia 1
Zerres Rietschel Majewski Syndrome
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