Phenotype #0000000729

Individual ID 00001547
Associated disease CSS
Birth_Details 42
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight 0.3
Age/Examination 03y06m (3 years, 6 months)
Age/Diagnosis -
OFC at birth (SDS) Unknown
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms +
Feeding_Problems/Start birth
Feeding_Problems/Duration brief
Eczema -
Phenotype details complex partial seizures; seizures onset 3y, low frequency; pale optic discs
Skin/Vascular -
Hypotonia +
Seizures seizures
Growth normal
Vision/Abnormality -
Hearing/Loss chronic otitis
Other hearing problems ?
Speech severe
Cognitive/Impairment moderate
Behaviour/Abnormality None
Hair/Scalp sparse
Eyebrows +
Eyelashes eyelashes, long (trichomegaly, HP:0000527)
Lacrimal_Duct -
MotorSkills delayed gross motor skills (HP:0002194); delayed fine motor skills (HP:0010862)
Ptosis -
Choanal_Stenosis -
Nose/Bridge +
Nose/Alae anteverted;thick
Face/Philtrum long;wide
Facial/Mouth/Wide -
Cleft -
Ears/Abnormal abnormal
Ears/Tags -
Hypertrichosis +
Skin/Wrinkling -
Scoliosis no
Pectus_Excavatum -
Elbow/Dislocated -
Patella/Small -
Brachydactyly +
Phalanges/Distal/Absent_5th -
Nails/Small fifth only
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 no
Eye/Movement -
Facial/Lips vermillion thick lower
Owner name Gijs Santen