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Term With Siblings |
Child Terms |
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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 +
atrichia with papular lesions
autosomal dominant cutis laxa +
autosomal dominant intellectual developmental disorder 63 with macrocephaly
autosomal dominant keratosis follicularis spinulosa decalvans
Autosomal Recessive Cutis Laxa +
Bagatelle Cassidy Syndrome
Bannayan-Riley-Ruvalcaba syndrome
Benign Familial Macrocephaly
Bullous Dystrophy, Hereditary Macular Type
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
Central Centrifugal Cicatricial Alopecia
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cervical Hypertrichosis with Underlying Kyphoscoliosis
chemotherapy-induced alopecia
chromosome 17q11.2 deletion syndrome
chromosome 1q21.1 deletion syndrome
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Congenital Alopecia X-Linked
Congenital Hemolytic Anemia with Emphysema and Cutis Laxa
Cutaneous Telangiectasia and Cancer Syndrome, Familial
Cutis Laxa-Marfanoid Syndrome
Daish Hardman Lamont Syndrome
dermatopathia pigmentosa reticularis
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
Familial Horizontal Gaze Palsy with Progressive Scoliosis +
Follicular Hamartoma, Alopecia, Cystic Fibrosis
frontal fibrosing alopecia
Gomez Lopez Hernandez Syndrome
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Hypergonadotropic Hypogonadism and Partial Alopecia
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Intellectual Developmental Disorder with Autism and Macrocephaly
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
Jagell Holmgren Hofer Syndrome
Johnson Neuroectodermal Syndrome
Kniest Like Dysplasia Lethal
Kuster Majewski Hammerstein Syndrome
loose anagen hair syndrome +
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
macrocephaly-autism syndrome
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Macrosomia Obesity Macrocephaly Ocular Abnormalities
mandibulofacial dysostosis with alopecia
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Megalencephaly with Dysmyelination
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Megalencephaly-Polydactyly Syndrome
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Microcephaly Sparse Hair Mental Retardation Seizures
multiple benign circumferential skin creases on limbs +
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
non-syndromic X-linked intellectual disability 93
Omphalocele Exstrophy Imperforate Anus
palmoplantar keratoderma and congenital alopecia 2
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Perniola Krajewska Carnevale Syndrome
Polydactyly-Macrocephaly Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
Prata Libéral Gonçalves Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
rigid spine muscular dystrophy 1
Scoliosis, Arachnodactyly, and Blindness
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Shprintzen Omphalocele Syndrome
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Snijders Blok-Campeau Syndrome
spondylocarpotarsal synostosis syndrome
syndromic X-linked intellectual disability Turner type
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
THAUVIN-ROBINET-FAIVRE SYNDROME
Thumb Deformity and Alopecia
Thumb Deformity, Alopecia, Pigmentation Anomaly
Urban Schosser Spohn Syndrome
Woodhouse-Sakati syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked VACTERL association
Zori Stalker Williams Syndrome
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| Synonyms |
| Exact Synonyms: |
MACS syndrome
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tall forehead, sparse hair, skin hyperextensibility, and scoliosis
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| Broad Synonyms: |
RIN2-related condition
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| Xrefs: |
MESH:C567770
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MIM:613075
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MONDO:0013115
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