Phenotype #0000000249

Individual ID 00000704
Associated disease CDLS
Phenotype details Gestation:38 weeks, Birth Weight:2.2 kg, Prenatal growth retardation, Postnatal growth retardation, Microcephaly, Severely impaired cognitive functioning, Hirsutism, Low posterior hairline, Synophrys, Long, curly eyelashes, Depressed nasal bridge, Long philtrum, Downturned angles of mouth, Thin upper vermillion border, Widely-spaced teeth, Highly-arched palate, Micrognathia, Low-set ears, Small hands, Limb reduction (absence of two fingers), Single palmar crease, Cutis marmorata, Short neck, Hypoplastic nipples, Small umbilicus, Cardiac defect (ventricular septal defect), Small genitalia, Hypospadias, Cryptorchidism, Inguinal hernia, GI reflux, Splenic cyst, Neurosensory deafness
Inheritance -
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah