Phenotype #0000043118

Individual ID 00048033
Associated disease CSS
Birth_Details -
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight -
Age/Examination -
Age/Diagnosis -
OFC at birth (SDS) -
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms -
Feeding_Problems/Start -
Feeding_Problems/Duration -
Eczema -
Phenotype details see paper; …
Skin/Vascular -
Hypotonia -
Seizures -
Growth -
Vision/Abnormality -
Hearing/Loss -
Other hearing problems -
Speech -
Cognitive/Impairment -
Behaviour/Abnormality -
Hair/Scalp -
Eyebrows -
Eyelashes -
Lacrimal_Duct -
MotorSkills -
Ptosis -
Choanal_Stenosis -
Nose/Bridge -
Nose/Alae -
Face/Philtrum -
Facial/Mouth/Wide -
Cleft -
Ears/Abnormal nr
Ears/Tags -
Hypertrichosis -
Skin/Wrinkling -
Scoliosis -
Pectus_Excavatum -
Elbow/Dislocated -
Patella/Small -
Brachydactyly -
Phalanges/Distal/Absent_5th -
Nails/Small -
Joints/Interphalangeal/Proximal -
Phalanges/Distal/Prominent -
Joint/Laxity -
Intestine/Abnormality -
Heart/Abnormality -
Kidney/Abnormality -
Teeth/Anomalies -
Infections -
Epiphyses/Cone_shaped -
Brain/Corpus_Callosum/Agenesis -
Missing hypoplastic phalanx of fingers or toes -
Bone/Age -
Stenosis_Pyloric -
Gastro-Esophoegal_Reflux -
Hernia -
Eye/Cornea -
Eye/Orbital -
Protein -
Brain/Imaging -
Eye/Movement -
Facial/Lips -
Owner name Eline van der Sluijs