Phenotype #0000015001

Individual ID 00004129
Associated disease CSS
Diagnosis/Initial -
Diagnosis/Definite CSS
Phenotype details mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);;
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen