MedlinePlus: Genetic Conditions
Autosomal recessive localized hypotrichosis, see Autosomal recessive hypotrichosis. *Autosomal recessive long QT syndrome (LQTS ... Autosomal recessive woolly hair with or without hypotrichosis, see Autosomal recessive hypotrichosis ... Autosomal recessive hypotrichosis. *Autosomal recessive incomplete congenital stationary night blindness, see Autosomal ... AH, see Autosomal recessive hypotrichosis. *AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism ...
Cartilage-hair hypoplasia: MedlinePlus Genetics
... hypotrichosis); and recurrent infections. Explore symptoms, inheritance, genetics of this condition. ... hypotrichosis. ); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. ...
Congenital insensitivity to pain with anhidrosis: MedlinePlus Genetics
They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs ...
WNT10A gene: MedlinePlus Genetics
The major features of SSPS include missing teeth, hypotrichosis, palmoplantar keratoderma, and fluid-filled sacs (cysts) on the ... hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. WNT10A gene mutations account for about 5 ...
EDA gene: MedlinePlus Genetics
... hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. EDA gene mutations are the most frequent ...
EDAR gene: MedlinePlus Genetics
... hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. EDAR gene mutations account for about 10 ...
GJA1 gene: MedlinePlus Genetics
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. ...