Patient and methods: A 7-year-old boy had severe short stature ( 3.5 SDS, MPH: 1.1 SDS), dysmorphic features, severe learning difficulties, and speech delay. [endocrine-abstracts.org]

We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. [keio.pure.elsevier.com]

At 7 years of age, he was referred to endocrinology for assessment of his severe short stature ( 4.11 SDS for height, mid parental height: 1.1 SDS, weight: -2.30 SDS). [ijpeonline.biomedcentral.com]

He developed a postnatal short stature, severe ID, hypertrichosis, hypotonia of the trunk and alternating periods of apnea and hyperventilation. He did not speak and was unable to walk. [nature.com]

We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: April 24, 2020 [patientslikeme.com]

[…] mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. 61 Giri D...Senniappan S 28785287 2017 31 The impact of choosing words carefully: an online investigation into imaging reporting strategies and best practice care for low back pain [malacards.org]

Showing of 30 Medical Terms Other Names Learn More: HPO ID 1%-4% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Disproportionate tall stature 0001519 Pes planus Flat feet Flat foot [ more ] 0001763 Scoliosis [rarediseases.info.nih.gov]

Epigenetic regulation of insulin-like growth factor signaling: a novel insight into the pathophysiology of neonatal pulmonary hypertension. Vasc Pharmacol. 2015;73:4–7. 17. [ijpeonline.biomedcentral.com]

Upslanting palpebral fissures 8% 0 57% Systemic features Ulnar deviation 17% 0 0 Hypertrichosis 16% 16% (1) 86% BOS posture 0 0 100% Others Neonatal macrosomy in one patient Structural cardiopathy, hypoglicemia Atresia choanal, atrial septal defect, hepatomegaly [rarediseasesjournal.com]

He had downward slanting of eyes, low set ears, short neck, hypoplastic toe nails, shortening of metacarpals and ring finger, previous surgically repaired sagittal craniosynostosis and bilateral undescended testes. [endocrine-abstracts.org]

Microcephaly 36% 0 100% Macrocephaly 0 100% 0 Downslanting palpebral fissures 50% 0 0 Broad/prominent forehead 42% 16% (1 ) 0 Glabellar nevus flammeus 0 100% 86% Arched eyebrows 31% 100% 0 Low-set/ posteriorly rotated ears 22% 100% 43% Anteverted nares [rarediseasesjournal.com]

But, macrocephaly instead of microcephaly seems to be SHAPNS most distinctive clinical sign12. [rarediseasesjournal.com]

[…] features were, for example, craniofacial dysmorphism (present in 70% of individuals), epilepsy (present in 26%), organ malformations (eg, congenital heart defects found in 7% or brain malformations found in 14%) or aberrant body measurements (eg, micro- or macrocephaly [nature.com]

pain. 61 Karran EL...Moseley GL 29230375 2017 32 Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 61 Xiang J...Shaw C 27690099 2016 [malacards.org]

back pain. 61 Karran EL...Moseley GL 29230375 2017 32 Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 61 Xiang J...Shaw C 27690099 [malacards.org]

He had downward slanting of eyes, low set ears, short neck, hypoplastic toe nails, shortening of metacarpals and ring finger, previous surgically repaired sagittal craniosynostosis and bilateral undescended testes. [endocrine-abstracts.org]

He has dysmorphic features including prominent long nasal bridge and forehead, small lower jaw, thin lips, low set cupped ears, strabismus and down-slanting palpebral fissures (Fig. 1). [ijpeonline.biomedcentral.com]

He had cryptorchidism. A heterozygous de novo frameshift variant in exon 11 of ASXL3 [chr18:g.31,318,587delA, c.1219delA., p.(Ser407AlafsTer2)] was identified by WES trio analysis. [nature.com]

Patient and methods: A 7-year-old boy had severe short stature ( 3.5 SDS, MPH: 1.1 SDS), dysmorphic features, severe learning difficulties, and speech delay. [endocrine-abstracts.org]

He has global developmental delay and complex learning difficulties requiring additional support at school. He also has been diagnosed with autism. [ijpeonline.biomedcentral.com]

Two years later, he had to be institutionalized because of severe behavioral problems, particularly continuous extreme screaming, also nocturnal. [dovepress.com]

bacilliformis: Candidates for Vaccine Development. 61 Henriquez-Camacho C...Maguina C 26413097 2015 44 A novel bradykinin-related dodecapeptide (RVALPPGFTPLR) from the skin secretion of the Fujian large-headed frog (Limnonectes fujianensis) exhibiting [malacards.org]

vulnificus. 61 Hwang SH...Choi SH 32010109 2019 10 Reactive oxygen species mediates a metabolic memory of high glucose stress signaling in bovine retinal pericytes. 61 Zhang LW...Chen BH 31341794 2019 11 Corrigendum to "Childhood-onset generalized epilepsy [malacards.org]