28
(78.4%)

CPOX

Abnormality of metabolism/homeostasis Congenital hemolytic anemia Jaundice Splenomegaly

hereditary coproporphyria (OMIM) Hereditary coproporphyria (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

28
(78.4%)

PRF1

Anemia Hypertriglyceridemia Jaundice Reticulocytopenia Splenomegaly

familial hemophagocytic lymphohistiocytosis 2 (OMIM) lymphoma, non-Hodgkin, familial (OMIM) idiopathic aplastic anemia (OMIM) Idiopathic aplastic anemia (ORDO)

Autosomal recessive inheritance

28
(78.4%)

GLRX5

Anemia Hyperglycinemia Jaundice Splenomegaly

spasticity-ataxia-gait anomalies syndrome (OMIM) sideroblastic anemia 3 (OMIM) Childhood-onset spasticity with hyperglycinemia (ORDO)

Autosomal recessive inheritance

28
(78.4%)

PEPD

Abnormality of metabolism/homeostasis Anemia Prolonged neonatal jaundice Splenomegaly

prolidase deficiency (OMIM) Prolidase deficiency (ORDO)

Autosomal recessive inheritance

28
(78.4%)

HK1

Abnormality of metabolism/homeostasis Jaundice Normochromic anemia Splenomegaly

non-spherocytic hemolytic anemia due to hexokinase deficiency (OMIM) Charcot-Marie-Tooth disease type 4G (OMIM) retinitis pigmentosa 79 (OMIM) Charcot-Marie-Tooth disease type 4G (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

28
(78.4%)

IL2RG

Anemia Edema Jaundice Splenomegaly

T-B+ severe combined immunodeficiency due to gamma chain deficiency (OMIM) combined immunodeficiency, X-linked (OMIM) T-B+ severe combined immunodeficiency due to gamma chain deficiency (ORDO) Omenn syndrome (ORDO)

X-linked recessive inheritance Autosomal recessive inheritance

28
(78.4%)

ATP7B

Hemolytic anemia Jaundice Proteinuria Splenomegaly

Wilson disease (OMIM) Wilson disease (ORDO)

Autosomal recessive inheritance

28
(78.4%)

SEC23B

Anemia of inadequate production Endopolyploidy on chromosome studies of bone marrow Jaundice Reticulocytosis Splenomegaly

congenital dyserythropoietic anemia type 2 (OMIM) Cowden syndrome 7 (OMIM) Cowden syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

28
(78.4%)

LYST

Anemia Edema Jaundice Splenomegaly

Chediak-Higashi syndrome (OMIM) Chédiak-Higashi syndrome (ORDO) Attenuated Chédiak-Higashi syndrome (ORDO)

Autosomal recessive inheritance

28
(78.4%)

SMPD1

Hypertriglyceridemia Microcytic anemia Prolonged neonatal jaundice Splenomegaly

Niemann-Pick disease type A (OMIM) Niemann-Pick disease type B (OMIM) Niemann-Pick disease type B (ORDO)

Autosomal recessive inheritance