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neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Motor delay, Anxiety, Delayed speech and language development, and Difficulty walking (gait disturbance) and others; and very common findings: Short attention span, Impaired toileting ability, Low muscle tone (hypotonia), and Feeding difficulties and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	26	Encephalopathy, Cerebral palsy, Irritability
Head and neck	5	Narrow palate, Thick lower lip vermilion, Facial hypotonia
Digestive system	4	Gastroesophageal reflux, Constipation, Difficulty swallowing (dysphagia)
Hormones	4	Small pituitary gland, Diabetes insipidus, Reduced circulating growth hormone concentration
Eyes	3	Nystagmus, Blindness, Optic nerve hypoplasia
Growth and development	2	Short stature, Reduced circulating growth hormone concentration
Muscles	2	Low muscle tone (hypotonia), Facial hypotonia
Arms and legs	1	Tapered finger
Ears	1	Recurrent otitis media
Skin	1	Thin nail
Bones and joints	1	Weak and brittle bones (osteoporosis)

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neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language

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neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications