[…] demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM: 609136 ] SOX17 Q9H6I2 non-pleiotropic Vesicoureteral reflux 3 (VUR3) [MIM: 613674 ] SOX18 P35713 non-pleiotropic Hypotrichosis-lymphedema-telangiectasia [sbg.bio.ic.ac.uk]

Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

Registry Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 607602 Genetic Test Registry Ichthyosis, Hystrix-Like, With Deafness HID Syndrome Hystrix-like Ichthyosis With Deafness HID 0 602540 Genetic Test Registry Ichthyosis, Leukocyte Vacuoles, Alopecia [ukgtn.nhs.uk]

Agim Tags: Case Report Source Type: research Ichthyosis follicularis, alopecia, and photophobia syndrome We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this [medworm.com]

hair Limitation of joint mobility Hypodontia Delayed puberty Sparse and thin eyebrow Failure to thrive Carcinoma Conductive hearing impairment Narrow mouth Osteoporosis Malar flattening Neoplasm of the skin Hypertension Nevus Sensorineural hearing impairment [mendelian.co]

opacity Pain Tremor Skin fissure Ainhum Woolly hair Clubbing Abnormal cornea morphology Hypergranulosis Visual loss Amniotic constriction ring Truncal obesity Achilles tendon contracture Oral leukoplakia Selective tooth agenesis Ectrodactyly Poikiloderma [mendelian.co]