Hao-Fountain syndrome due to 16p13.2 microdeletion

Chronic constipation

Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...

Digestive

Chronic diarrhea

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks....

Digestive

Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....

Growth

Gastroesophageal reflux

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...

Digestive

Hearing impairment

A decreased magnitude of the sensory perception of sound....

Otic

Poor suck

An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....

Digestive

Seizure

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...

Neurological

Netherton syndrome

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...

Nil-Deshwar neurodevelopmental syndrome

Nil-Deshwar neurodevelopmental syndrome is a medical condition that may be associated with various symptoms an...

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and...

intellectual developmental disorder, autosomal dominant 77

intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...

mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...

neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities

neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities is a medical condition that may b...