Phenotype #0000059730

Individual ID 00080165
Associated disease ACRDYS-1
Phenotype details PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 34y
Age/Onset -
Phenotype/Onset -
Stature -
Growth -
Malformation/Genital -
Thyroid/Dysfunction -
Hearing/Loss -
Nose/Bridge -
Nose/Alae -
Teeth/Anomalies -
Scoliosis -
Brachydactyly -
Bone/Age -
Teeth/Number -
Eye/Orbital -
Protein -
Head/Skull -
Intellectual_dis -
Puberty -
Face/Shape -
Weight -
Ossification/Ectopic -
Calcification -
Calcium -
Ion_Homeostasis -
Hormone -
Vitamin -
Testis/Abnormal -
Reproduction/Abnormal/Physiology -
Facial/Nose -
Eye/Movement -
Hair/Pigmentation -
Neck -
Face/Cheeks -
Bone/Density -
Eye/Lens/Cataract -
Hand_Feet/Abnormal -
Development -
Owner name Francesca Marta Elli