Multiple congenital anomalies-hypotonia-seizures syndrome 3

An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.

Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome

An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.

Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy

An autosomal recessive disorder characterized by delayed psychomotor development, hypotonia, and early-onset seizures in most patients. Additional variable features are cerebellar atrophy, ataxia, and non-specific dysmorphic features. Some patients may have the Emm-null blood group phenotype.

Salt and pepper developmental regression syndrome

A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.

Hyperphosphatasia with impaired intellectual development syndrome 2

An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures.

Paroxysmal nocturnal hemoglobinuria 1

A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.

Hyperphosphatasia with impaired intellectual development syndrome 4

An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase.

Glycosylphosphatidylinositol biosynthesis defect 11

An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase.

Glycosylphosphatidylinositol biosynthesis defect 1

An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions.

Hyperphosphatasia with impaired intellectual development syndrome 3

An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.

Multiple congenital anomalies-hypotonia-seizures syndrome 1

An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.

Hyperphosphatasia with impaired intellectual development syndrome 6

An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients.

Hyperphosphatasia with impaired intellectual development syndrome 1

A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.