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Alopecia, Hypogonadism, Extrapyramidal Disorder
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alopecia-mental retardation syndrome 4
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
Arthrogryposis, Impaired Intellectual Development, and Seizures
autosomal dominant intellectual developmental disorder 6
Baraitser Rodeck Garner syndrome
Borjeson-Forssman-Lehmann syndrome
Boucher-Neuhauser syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Chang Davidson Carlson Syndrome
chromosome 15q13.3 microdeletion syndrome
Chudley-Rozdilsky Syndrome
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
Copper Deficiency, Familial Benign
De Sanctis-Cacchione syndrome
Deafness-Hypogonadism Syndrome
developmental delay and seizures with or without movement abnormalities
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
Encephalopathy, Spastic Tetraparesis, and Hypogonadism
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Infantile Convulsions and Paroxysmal Choreoathetosis
Hyperglycinemia, Lactic Acidosis, and Seizures
Hyperleucine-Isoleucinemia
hypermethioninemia due to adenosine kinase deficiency
Hyperphosphatemia, Polyuria, and Seizures
Hypogonadism and Testicular Atrophy
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism +
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypomyelinating leukodystrophy 7
hypoparathyroidism-retardation-dysmorphism syndrome
Hypotonia, Seizures, and Precocious Puberty
Ichthyosis and Male Hypogonadism
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Isolated Mineralocorticoid Deficiency
Johnson Neuroectodermal Syndrome
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
Methionine Malabsorption Syndrome
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Moebius Axonal Neuropathy Hypogonadism
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Muller Barth Menger Syndrome
multiple congenital anomalies-hypotonia-seizures syndrome +
myoclonic-atonic epilepsy
Myopathy, Cataract, Hypogonadism Syndrome
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Occipital Cortical Malformations
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Perniola Krajewska Carnevale Syndrome
Primary Aldosteronism, Seizures, and Neurologic Abnormalities
Progressive External Ophthalmoplegia with Hypogonadism
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
Seizures, Cortical Blindness, and Microcephaly Syndrome
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Cabezas type
Tranebjaerg Svejgaard syndrome
Vasquez Hurst Sotos Syndrome
Weinstein Kliman Scully Syndrome
Woodhouse-Sakati syndrome
X-linked mental retardation Gustavson type
X-linked mental retardation-hypotonic facies syndrome-1
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