Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
- Cryptorchidism
- Fetal growth restriction
- Abnormal heart morphology
- Inguinal hernia
- Polyhydramnios
- Micrognathia
- Seizure
- Cataract
- Polydactyly
- Joint contracture of the hand
- Pelvic kidney
- Frontal bossing
- Decreased fetal movement
- Delayed eruption of teeth
- Low-set ears
- Duodenal atresia
- Lissencephaly
- Gray matter heterotopia
- Hypoplasia of the corpus callosum
- Upslanted palpebral fissure
- Single transverse palmar crease
- Sacral dimple
- Posteriorly rotated ears
- Epicanthus
- Camptodactyly
- Recurrent aspiration pneumonia
- Congenital omphalocele
- Epileptic spasm
- Anteverted nares
- Cavum septum pellucidum
- Thick upper lip vermilion
- Wide nasal bridge
- Clinodactyly of the 5th finger
- Short nose
- Motor delay
- Progressive spastic paraplegia
- Midline brain calcifications
- Bitemporal hollowing
- Deep palmar crease
- Infantile muscular hypotonia
- Thin upper lip vermilion
- Agyria
- Failure to thrive
- Cleft palate
- Intellectual disability
- Infantile spasms
- Abnormality of the abdominal wall
- Abnormality of metabolism/homeostasis
- Microcephaly
- Pachygyria
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