Phenotype #0000232899

Individual ID 00307081
Associated disease NDD
Diagnosis/Initial neurodegeneration
Diagnosis/Definite -
Phenotype details birth height 50.2 cm (+0.17 SD), weight 3,062 g (-0.6 SD); 14y10m-height 122 cm (-5.92 SD), weight 16.1 kg (-7.77 SD), OFC 44 cm (-7.4 SD); developmental delay; intellectual disability; speech delay; occasionally aggressive; learning disorder; hypotonia, axial hypotone with increased distal tone; no epilepsy; no cardiac defect; dextroconvex thoracolumbar scoliosis, dislocation/subluxati on of the left femoral head, clinodactyly, overlapping toes, prominent heels, bilateral clubfoot, limited elbow extension; microcephaly, plagiocephaly, highly arched eyebrow, long eyelashes, downslanted palpebral fissures, severe ptosis (unsuccessfully treated), malar hypoplasia, low-set posteriorly rotated ears, carp-shaped mouth, long philtrum, crowded teeth, mandibular micrognathia, coarse facies, generalized hirsutism, low posterior hairline; freckling (forehead), several 5-10 mm, hyperpigmented macules (feet, dorsal), thin nails, hypertrichosis; cryptorchidism; GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; suspicious for bowel malrotation, inflammatory bowel disease (Crohn's disease), marked atrophy left kidney
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-30 09:03:17 +02:00 (CEST)
Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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