Phenotype #0000000705

Individual ID 00001523
Associated disease CSS
Birth_Details 39/40
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Birth/Weight 0
Age/Examination 09y03m (9 years, 3 months)
Age/Diagnosis -
OFC at birth (SDS) N/A
Age/Onset -
Height-Weight-OFC -
Phenotype/Onset -
Abdominal/Symptoms +
Feeding_Problems/Start before6mths
Feeding_Problems/Duration .5
Eczema -
Phenotype details Also carrier for DMD (detected on array persistent elevation CK as child; MRI-brain Persistent falcine sinus else normal; seizures Tonic SzEEG R posterotemporal; seizures onset 8y, 1 per 2m; divergent squint
Skin/Vascular -
Hypotonia +
Seizures seizures
Growth normal
Vision/Abnormality abnormal
Hearing/Loss -
Other hearing problems ?
Speech moderate
Cognitive/Impairment moderate
Behaviour/Abnormality -
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 -
Joints/Interphalangeal/Proximal +
Phalanges/Distal/Prominent +
Joint/Laxity +
Intestine/Abnormality -
Heart/Abnormality -
Kidney/Abnormality -
Teeth/Anomalies delayed permanent
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 strabismus
Facial/Lips vermillion thick lower
Owner name Gijs Santen