Phenotype #0000000738

Individual ID 00001556
Associated disease CSS
Birth_Details 40
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight -4
Age/Examination 03y (3 years)
Age/Diagnosis -
OFC at birth (SDS) 33
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms +
Feeding_Problems/Start birth
Feeding_Problems/Duration 2
Eczema -
Phenotype details Congenital heart,disease (Aort quartation, PFO; MRI-brain ventricular asymmetry, myelination delay, mega sisterma magna
Skin/Vascular +
Hypotonia +
Seizures no
Growth ?
Vision/Abnormality -
Hearing/Loss -
Other hearing problems ?
Speech severe
Cognitive/Impairment ?
Behaviour/Abnormality ?
Hair/Scalp sparse
Eyebrows -
Eyelashes -
Lacrimal_Duct +
MotorSkills delayed gross motor skills (HP:0002194)
Ptosis +
Choanal_Stenosis -
Nose/Bridge -
Nose/Alae anteverted;thick
Face/Philtrum short;wide
Facial/Mouth/Wide +
Cleft -
Ears/Abnormal normal
Ears/Tags -
Hypertrichosis -
Skin/Wrinkling +
Scoliosis no
Pectus_Excavatum +
Elbow/Dislocated -
Patella/Small -
Brachydactyly -
Phalanges/Distal/Absent_5th -
Nails/Small multiple, including 5th
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 MRI
Eye/Movement -
Facial/Lips vermillion thick lower
Owner name Gijs Santen