Phenotype #0000000695

Individual ID 00001513
Associated disease CSS
Birth_Details 38
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight 1
Age/Examination 22y (22 years)
Age/Diagnosis -
OFC at birth (SDS) 35.5
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms -
Feeding_Problems/Start -
Feeding_Problems/Duration -
Eczema -
Phenotype details Umbilical hernia delayed puberty, menarche > 18Y, irregular menses
Skin/Vascular -
Hypotonia +
Seizures +
Seizures/Age/Onset 2
Seizure/Frequency NA
Seizure/Type TCG and partial motor
Growth delayed
Vision/Abnormality ?
Vision/Other nr
Hearing/Loss -
Other hearing problems -
Speech moderate
Cognitive/Impairment moderate-severe
Behaviour/Abnormality Yes (agitatiom, fobias, coprolalia responds to Risperidone)
Hair/Scalp normal
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
Philtrum/Width +
Face/Philtrum long
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/MRI 10Y multiple hypointense T1 and hyperintense T2 focal lesions in the peritrigonal regions. Enlarged Virchow-Robin spaces, malformation of left hypocampus)
Brain/Corpus_Callosum/Agenesis -
Missing hypoplastic phalanx of fingers or toes -
Bone/Age delayed
Stenosis_Pyloric -
Gastro-Esophoegal_Reflux -
Hernia -
Eye/Cornea myopia
Eye/Orbital -
Protein -
Eye/Movement -
Facial/Lips vermillion thick lower
Owner name Gijs Santen