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acromesomelic dysplasia, Maroteaux type
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Alopecia Congenita Keratosis Palmoplantaris +
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Alopecia, Hypogonadism, Extrapyramidal Disorder
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
anterior cerebral artery infarction
atrichia with papular lesions
autosomal dominant keratosis follicularis spinulosa decalvans
autosomal dominant osteopetrosis 2
brain small vessel disease 1
Bullous Dystrophy, Hereditary Macular Type
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
Central Centrifugal Cicatricial Alopecia
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebroretinal Microangiopathy with Calcifications and Cysts +
chemotherapy-induced alopecia
chronic recurrent multifocal osteomyelitis
combined oxidative phosphorylation deficiency 12
Congenital Alopecia X-Linked
Cutaneous Telangiectasia and Cancer Syndrome, Familial
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
Demyelinating Autoimmune Diseases, CNS +
dermatopathia pigmentosa reticularis
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
Familial Vascular Leukoencephalopathy
Follicular Hamartoma, Alopecia, Cystic Fibrosis
frontal fibrosing alopecia
Gomez Lopez Hernandez Syndrome
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Hereditary Central Nervous System Demyelinating Diseases +
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
Hypergonadotropic Hypogonadism and Partial Alopecia
hypomyelinating leukoencephalopathy
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
inclusion body myopathy and brain white matter abnormalities
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Intervertebral Disc Displacement +
Jagell Holmgren Hofer Syndrome
Johnson Neuroectodermal Syndrome
Kuster Majewski Hammerstein Syndrome
Laplane Fontaine Lagardere Syndrome
lethal congenital contracture syndrome +
Leukoencephalopathy with Ataxia
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Dystonia and Motor Neuropathy
leukoencephalopathy with vanishing white matter +
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
loose anagen hair syndrome +
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
mandibulofacial dysostosis with alopecia
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
middle cerebral artery infarction
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Oculopharyngeal Myopathy with Leukoencephalopathy 1
Ossification of Posterior Longitudinal Ligament +
palmoplantar keratoderma and congenital alopecia 2
Perniola Krajewska Carnevale Syndrome
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
posterior cerebral artery infarction
Posterior Leukoencephalopathy Syndrome
progressive leukoencephalopathy with ovarian failure
progressive multifocal leukoencephalopathy
Ribose 5-Phosphate Isomerase Deficiency
RNASET2-deficient cystic leukoencephalopathy
spondylocostal dysostosis +
spondyloepimetaphyseal dysplasia +
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Telencephalic Leukoencephalopathy
Thumb Deformity and Alopecia
Thumb Deformity, Alopecia, Pigmentation Anomaly
Urban Schosser Spohn Syndrome
vertebral hypersegmentation and orofacial anomalies
Woodhouse-Sakati syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
X-linked spondyloepiphyseal dysplasia tarda
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