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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
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant intellectual developmental disorder 6
autosomal dominant microcephaly +
Bainbridge-Ropers syndrome
Baraitser Rodeck Garner syndrome
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
cerebellar atrophy, visual impairment, and psychomotor retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Childhood-Onset Chorea with Psychomotor Retardation
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q13.3 microdeletion syndrome
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 disorder of glycosylation +
congenital lactase deficiency
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital sucrase-isomaltase deficiency
Copper Deficiency, Familial Benign
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
De Hauwere Leroy Adriaenssens syndrome
Developmental Delay, Epilepsy, and Neonatal Diabetes
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
Edinburgh Malformation Syndrome
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Infantile Convulsions and Paroxysmal Choreoathetosis
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Forsythe-Wakeling Syndrome
Fructose and Galactose Intolerance
Fructose Metabolism, Inborn Errors +
fructose-1,6-bisphosphatase deficiency +
Galloway-Mowat syndrome +
glucose metabolism disease +
glucosephosphate dehydrogenase deficiency +
glycerol kinase deficiency
glycogen metabolism disorder +
Glycosylphosphatidylinositol Biosynthesis Defect 15
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
HEART AND BRAIN MALFORMATION SYNDROME
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Hoyeraal Hreidarsson Syndrome
Hyperleucine-Isoleucinemia
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
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
intestinal disaccharidase deficiency
Kaufman oculocerebrofacial syndrome
Kozlowski Rafinski Klicharska Syndrome
Lactate Dehydrogenase Deficiency
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 2
MacDermot Winter Syndrome
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
mandibulofacial dysostosis, Guion-Almeida type
Mannosidase Deficiency Diseases +
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Methionine Malabsorption Syndrome
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 pyruvate carrier deficiency
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Muller Barth Menger Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple carboxylase deficiency +
multiple congenital anomalies-hypotonia-seizures syndrome +
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myoclonic-atonic epilepsy
Myopathy with Storage of Glycoproteins and Glycosaminoglycans
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 HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
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
Occipital Cortical Malformations
Oculopalatocerebral Syndrome
Okur-Chung Neurodevelopmental Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
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
Perniola Krajewska Carnevale Syndrome
PHGDH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)
Phosphoenolpyruvate Carboxykinase Deficiency +
polyhydramnios, megalencephaly, and symptomatic epilepsy
Primary Aldosteronism, Seizures, and Neurologic Abnormalities
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
Pyruvate Metabolism, Inborn Errors +
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ribose 5-Phosphate Isomerase Deficiency
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
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, Brachydactyly, Intellectual Developmental Disability, and Seizures
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
Storage of Unusual Polysaccharide
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Total Anonychia with Microcephaly
Tranebjaerg Svejgaard syndrome
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Warburton Anyane Yeboa Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
X-linked mental retardation Gustavson type
Zerres Rietschel Majewski Syndrome
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