Phenotypes for disease #00401 (NLS1 (Neu-Laxova syndrome (NLS)), OMIM:256520)

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Individual ID     
0000015307 born vaginally, died immediately after birth, very small for gestational age and had severe microcephaly (records of actual growth parameters at birth could not be retrieved), micrognathia, bulging eyes with absent eyelids, severe ichthyosis of the skin, cleft lip and palate on the right side, a very flat nose, a very short neck, and generalized edema. Also had extremely abnormal limbs with hypoplastic forearms and no discernible digits in the upper or lower limbs. - - Familial, autosomal recessive 00y00m00d - - - - Marianne Vos (LOVD-team) 00016941
0000015308 born preterm 29w after an uneventful vaginal delivery. Antenatal ultrasounds at both 19 and 24w of gestation showed polyhydramnios, curved vertebrae, protruded eyes, an open mouth, low-set ears, a short and broad neck, microcephaly, generalized skin edema (especially of the trunk and scalp), abnormally flexed hands, extended crossed feet with a rocker-bottom appearance, and fetal akinesia. Postnatal screening for congenital infection was inconclusive. Postnatal examination revealed massive body swelling and marked disfigurement of the face and limbs, which appeared engulfed by a thin and shiny membrane (Figure S1B). The eyes were small, fixed, and widely spaced and showed supraorbital massive cystic swelling bilaterally. The nose was completely flat and obliterated, and the mouth was large and fixed open with massively swollen lips. The neck was extremely short. The ear lobules were edematous with tight overlying skin. The trunk was short and shiny with visible veins. The baby exhibited a fixed-flexion appearance with generalized contractures. The massively edematous hands and feet had no discernible digits. A skeletal survey showed defaced and overlapping cranial bones with severe softtissue edema. Thoracic, vertebral, pelvic, and other tubular bones had no major skeletal defects - - Familial, autosomal recessive 00y00m00d - - - - Marianne Vos (LOVD-team) 00016942
0000015309 delivered vaginally at term with thick meconium-stained liquor. Birth weight was 2.24 kg. The baby was evidently jaundiced with generalized colloidonlike ichthyosis. He was microcephalic (head circumferenceof 27.5 cm) with a sloping forehead, a broad nose, large ears, a short neck, spastic long fingers, and fixed contractures of the extremities. He succumbed to pneumonia and pseudomonas sepsis and died at 1 month of age. - - Familial, autosomal recessive 00y - - - - Marianne Vos (LOVD-team) 00016943
0000227010 HP:0000340, HP:0000470, HP:0000369, HP:0000347, HP:0001511, HP:0000252, HP:0001838, HP:0008064 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00295965
0000227011 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0012472, HP:0000347, HP:0000520, HP:0000252, HP:0001339, HP:0001321, HP:0006101, HP:0001838, HP:0002650, HP:0008064, HP:0002089, HP:0001770, HP:0003241 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00295966
0000227013 HP:0001371 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00295966
0000227245 HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0012472, HP:0000218, HP:0000347,HP:0003196, HP:0000463, HP:0007651,HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0000238, HP:0002514, HP:0001371, HP:0001762, HP:0005684, HP:0010557,HP:0008064,HP:0003241 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00299923
0000227528 HP:0002126, HP:0001562, HP:0001558, HP:0001511, HP:0000340, HP:0000470, HP:0000377, HP:0000369, HP:0000153, HP:0000347, HP:0000316, HP: 0000445, HP:0008551, HP:0000520, HP:0000518, HP:0000252, HP:0001339, HP:0001321, HP:00012714, HP:0002119, HP:0001371, HP:0001838, HP:0000954, HP:0008064, HP:0000951, HP:0001196, HP:0002514, HP:0002089, HP:0003241 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah 00300227
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