Phenotype #0000000740

Individual ID 00001558
Associated disease CSS
Birth_Details 41w
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight 0.2
Age/Examination 04y (4 years)
Age/Diagnosis -
OFC at birth (SDS) 36
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms feeding problems
Feeding_Problems/Start birth
Feeding_Problems/Duration -
Eczema -
Phenotype details high narrow palate, two cafĂ© au lait spots (2x1 cm) on trunk
Skin/Vascular normal
Hypotonia generalized
Seizures no
Seizures/Age/Onset -
Seizure/Frequency NA
Seizure/Type ?
Growth normal
Vision/Abnormality -
Vision/Other nr
Hearing/Loss normal
Other hearing problems ?
Speech severe
Cognitive/Impairment severe
Behaviour/Abnormality attention span short;hyperactivity
Hair/Scalp sparse
Eyebrows -
Eyelashes eyelashes, long (trichomegaly, HP:0000527)
Lacrimal_Duct -
MotorSkills delayed gross motor skills (HP:0002194)
Ptosis -
Choanal_Stenosis -
Nose/Bridge normal
Nose/Alae normal;thick
Philtrum/Width -
Face/Philtrum long
Facial/Mouth/Wide -
Cleft -
Ears/Abnormal abnormal
Ears/Tags -
Hypertrichosis +
Skin/Wrinkling no
Scoliosis ?
Pectus_Excavatum +
Elbow/Dislocated ?
Patella/Small ?
Brachydactyly brachydactyly (HPO_000156)
Phalanges/Distal/Absent_5th -
Nails/Small multiple
Joints/Interphalangeal/Proximal +
Phalanges/Distal/Prominent -
Joint/Laxity ?
Intestine/Abnormality -
Heart/Abnormality VSD
Kidney/Abnormality -
Teeth/Anomalies -
Infections ?
Epiphyses/Cone_shaped ?
Brain/MRI ?
Brain/Corpus_Callosum/Agenesis ?
Missing hypoplastic phalanx of fingers or toes ?
Bone/Age ?
Stenosis_Pyloric -
Gastro-Esophoegal_Reflux -
Hernia -
Eye/Cornea -
Eye/Orbital -
Protein -
Eye/Movement -
Facial/Lips -
Owner name Gijs Santen