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Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Achromatopsia Incomplete, X-Linked
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
alpha-thalassemia myelodysplasia syndrome
Amish Lethal Microcephaly
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Aphalangia Syndactyly Microcephaly
Arthrogryposis, X-Linked, Type V
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes 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
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
cleft palate, cardiac defects, and intellectual disabillity
combined T cell and B cell immunodeficiency +
Cone Dystrophy, X-Linked, with Tapetal-like Sheen
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital bilateral absence of vas deferens +
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Congenital Ptosis, Hereditary 2
corpus callosum agenesis-abnormal genitalia syndrome
Craniofacioskeletal Syndrome
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Deafness, High-Frequency Sensorineural, X-Linked
deafness-intellectual disability, Martin-Probst type syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dilated Cardiomyopathy 3A
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
External Ophthalmoplegia and Myopia
Fetal Akinesia Syndrome, X-Linked
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
glycogen storage disease VIII
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Hersh Podruch Weisskopk Syndrome
Heyn-Sproul-Jackson Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Hoyeraal Hreidarsson Syndrome
Hydrocephalus with Cerebellar Agenesis
hypertelorism, microtia, facial clefting syndrome
Hypertrichosis Congenital Generalized X-Linked
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypospadias-Mental Retardation Syndrome
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
Intracranial Berry Aneurysm 5
Isolated Microphthalmia with Coloboma 1
Isolated Noncompaction of the Ventricular Myocardium +
Kaufman oculocerebrofacial syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
Lissencephaly 6, with Microcephaly
MacDermot Winter Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Membranoproliferative Glomerulonephritis, X-Linked
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mental Retardation, X-Linked +
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 Microcornea Syndrome Seemanova Type
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, 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
Midline Defects, X-Linked
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Multiple Pterygium Syndrome, X-Linked
Myopia 26, X-Linked, Female-Limited
Nabais Sa-de Vries Syndrome, Type 1
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
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 MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
Nijmegen Breakage Syndrome-Like Disorder
Nystagmus 5, Infantile Periodic Alternating
Oculopalatocerebral Syndrome
ornithine carbamoyltransferase deficiency
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Partial Agenesis of Corpus Callosum, X-Linked
Partington Anderson Syndrome
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
primary ovarian insufficiency 1
primary ovarian insufficiency 4
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Radial Ray Deficiency, X-Linked
Radiation Sensitivity of Natural Killer Activity
Radius Absent Anogenital Anomalies
Rajab Interstitial Lung Disease with Brain Calcifications 1
reducing body myopathy 1B
Reticuloendotheliosis, X-Linked
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Russell-Silver Syndrome, X-Linked
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
Selective Tooth Agenesis, X-Linked, 1
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, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Silengo Lerone Pelizza Syndrome
Sketetal Dysplasia Coarse Facies Mental Retardation
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
split hand-foot malformation 2
spondyloepimetaphyseal dysplasia, Genevieve-type
Spondylometaphyseal Dysplasia, X-Linked
Surfactant Metabolism Dysfunction, Pulmonary, 4
syndromic microphthalmia 1
syndromic microphthalmia 10
syndromic microphthalmia 11
syndromic microphthalmia 12
syndromic microphthalmia 13 A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28. (DO)
syndromic microphthalmia 14
syndromic microphthalmia 2
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic microphthalmia 8
syndromic microphthalmia 9
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
terminal osseous dysplasia
Testicular Germ Cell Tumor 1
Thrombocythemia, X-Linked
Thyroxine-Binding Globulin Deficiency +
Torticollis Keloids Cryptorchidism Renal Dysplasia
Total Anonychia with Microcephaly
Vasquez Hurst Sotos Syndrome
Von Willebrand Disease, X-Linked Form
Warburton Anyane Yeboa Syndrome
Winship Viljoen Leary Syndrome
X Inactivation, Familial Skewed, 1
X Inactivation, Familial Skewed, 2
X-Linked Anemia without Thrombocytopenia
X-linked cardiac valvular dysplasia
X-linked cleft palate with or without ankyloglossia
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked congenital myopathy with fiber-type disproportion
X-linked dilated cardiomyopathy
X-linked dominant disease +
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia +
X-Linked Hypogammaglobulinemia
X-linked hypoparathyroidism
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-Linked Macular Dystrophy +
X-Linked Modifier for Neurofunctional Defects
X-linked nonsyndromic deafness +
X-linked panhypopituitarism
X-linked recessive disease +
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
X-Linked Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
X-linked thrombophilia due to factor IX defect
X-Linked Vesicoureteral Reflux
Zerres Rietschel Majewski Syndrome
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