hernia 0000023 Respiratory insufficiency Respiratory impairment 0002093 Umbilical hernia 0001537 Percent of people who have these symptoms is not available through HPO Abnormality of the abdominal wall 0004298 Autosomal recessive inheritance 0000007 [rarediseases.info.nih.gov]

GN is constantly asymptomatic, easily ignored and likely damages other organs during tumour progression. [medworm.com]

Topics Dyssegmental dysplasia Relapsing Fever Dyspnea Mode of inheritance Christ-Siemens-Touraine syndrome Natural History Congenital neurologic anomalies Autosomal recessive inheritance Documentation 0 Figures and Tables Download Full PDF Version (Non-Commercial [7p.multiples.us]

[…] stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea [csbg.cnb.csic.es]

Structurally, these macromolecules are composed of a protein core to which several linear glycosaminoglycan (GAG) side chains are covalently bound. [scinapse.io]

nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

His course included significant feeding and respiratory difficulties, severe physical and psychomotor retardation, and recurrent fever of unknown etiology believed to be of central origin. [ncbi.nlm.nih.gov]

His course included significant feeding and respiratory difficulties, severe physical and psychomotor retardation, and recurrent fever of unknown etiology believed to be of central origin… CONTINUE READING [semanticscholar.org]

[…] symbols: PRCAN, SJS1, perlecan ) Mouse Orthologs Hspg2 (Withdrawn symbols: AI852380, Plc ) Source OMIM:224410 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) [mousephenotype.org]

OSD has a higher risk of tethered spinal cord syndrome or other neurological/neurosurgical problems. Normally the caudal end of the spinal cord, the conus medullaris, ha... [medworm.com]

TYPE, DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE Classification bone, developmental, eye, genetic Phenotypes Abnormality of the abdominal wall ; Anisospondyly ; Autosomal recessive inheritance ; Bowing of the long bones ; Calvarial skull defect ; Cryptorchidism [mousephenotype.org]

0002093 Umbilical hernia 0001537 Percent of people who have these symptoms is not available through HPO Abnormality of the abdominal wall 0004298 Autosomal recessive inheritance 0000007 Calvarial skull defect Cranial defect Skull defect [ more ] 0001362 Cryptorchidism [rarediseases.info.nih.gov]

The patients can associate cryptorchidism (50% of male patients), kidney abnormalities, bleeding disorders, articular hyperlaxity, lymphedema, multiple nevi, hypotonia and epilepsy. [intechopen.com]

Case A2 is the firstreported DD-SH identified on first trimester ultrasound.As in most lethal skeletal dysplasias, our cases wereassociated with severe micromelia and pulmonary hypoplasia.The dumbbell appearance of the shortened long bones, relatedto [docslide.com.br]