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2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
2-Methylacetoacetyl CoA Thiolase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-Hydroxyisobutyric Aciduria
5-Oxoprolinase Deficiency
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
adenylosuccinase lyase deficiency
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aminoacylase 1 Deficiency
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
argininosuccinic aciduria
aromatic L-amino acid decarboxylase deficiency
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant microcephaly +
Bainbridge-Ropers syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Beta-Aminoisobutyric Acid, Urinary Excretion of
beta-ketothiolase deficiency
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
branched-chain keto acid dehydrogenase kinase deficiency
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
carboxypeptidase N deficiency
Cardiofacioneurodevelopmental Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebral creatine deficiency syndrome +
cerebral creatine deficiency syndrome 1
Childhood-Onset Chorea with Psychomotor Retardation
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital glutamine deficiency
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
CST3-related cerebral amyloid angiopathy +
De Hauwere Leroy Adriaenssens syndrome
Defect of Tricarboxylic Acid Cycle
developmental and epileptic encephalopathy 116
Developmental Delay, Epilepsy, and Neonatal Diabetes
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dicarboxylic aminoaciduria
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Edinburgh Malformation Syndrome
Ellis Yale Winter Syndrome
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
ENCEPHALOPATHY, PORPHYRIA-RELATED
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
familial hypertryptophanemia
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Forsythe-Wakeling Syndrome
GABA aminotransferase deficiency
Galloway-Mowat syndrome +
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glutamate Monosodium Sensitivity
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
Glycinuria with or without Oxalate Urolithiasis
Glycosylphosphatidylinositol Biosynthesis Defect 15
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
HEART AND BRAIN MALFORMATION SYNDROME
Hereditary Central Nervous System Demyelinating Diseases +
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
Hoyeraal Hreidarsson Syndrome
Hyperleucine-Isoleucinemia
Hypertaurinuric Cardiomyopathy
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypospadias-Mental Retardation Syndrome
Ichthyosis, Split Hairs, and Amino Aciduria
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Indolylacroyl Glycinuria with Mental Retardation
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile Hypotonia with Psychomotor Retardation +
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
Isobutyryl-CoA Dehydrogenase Deficiency
isolated sulfite oxidase deficiency
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
leucine-sensitive hypoglycemia of infancy
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
Lysine Malabsorption Syndrome
lysinuric protein intolerance
Lysosomal Storage Diseases, Nervous System +
MacDermot Winter Syndrome
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
Maleylacetoacetate Isomerase Deficiency
mandibulofacial dysostosis, Guion-Almeida type
maple syrup urine disease +
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mercaptolactate-Cysteine Disulfiduria
Methionine Malabsorption Syndrome
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonyl-CoA Epimerase Deficiency +
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
mitochondrial DNA depletion syndrome 5
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple acyl-CoA dehydrogenase deficiency +
multiple carboxylase deficiency +
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myopathy due to Malate-Aspartate Shuttle Defect
N-Acetylaspartate Deficiency
Nabais Sa-de Vries Syndrome, Type 1
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
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
neurodevelopmental disorder with spastic paraplegia and microcephaly
Nijmegen Breakage Syndrome-Like Disorder
nuclear type mitochondrial complex I deficiency 20
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Okur-Chung Neurodevelopmental Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
oxoglutarate dehydrogenase deficiency
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Parenti-Mignot Neurodevelopmental Syndrome
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation
Partington Anderson Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Rajab Interstitial Lung Disease with Brain Calcifications 1
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
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
sepiapterin reductase deficiency
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
spondyloepimetaphyseal dysplasia, Genevieve-type
succinic semialdehyde dehydrogenase deficiency
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
systemic primary carnitine deficiency disease
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
THAUVIN-ROBINET-FAIVRE SYNDROME
Total Anonychia with Microcephaly
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Tryptophanuria with Dwarfism
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
Warburton Anyane Yeboa Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
Zerres Rietschel Majewski Syndrome
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