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104 Possible Causes for Affected Infants Appear Normal at Birth

  • Citrullinemia

    Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness[uniprot.org] Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and[snpedia.com] Affected infants typically appear normal at birth, but as ammonia builds up in the body, they develop a lack of energy (lethargy), poor feeding, vomiting, seizures, and loss[en.wikipedia.org]

  • Foreign Body in the Eye

    Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and[ghr.nlm.nih.gov] Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases.[ghr.nlm.nih.gov]

  • Hypothyroidism

    Most children born with congenital hypothyroidism appear normal at birth, possibly because the maternal thyroid hormones have sustained the infant's normal thyroid function[childrenshospital.org] […] hypothyroidism is inherited by an autosomal recessive gene, which means that two copies of the gene are necessary to produce the condition and both males and females are equally affected[childrenshospital.org]

  • Cesarean Section

    Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and[ghr.nlm.nih.gov] Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases.[ghr.nlm.nih.gov]

  • SIDDT Syndrome

    […] sudden infant death with dysgenesis of the testes syndrome An autosomal recessive disorder (OMIM:608800) in which affected infants appear normal at birth, develop signs of[medical-dictionary.thefreedictionary.com] Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest.[uniprot.org] Affected infants appeared normal at birth, but developed signs of visceroautonomic dysfunction early in life followed by death before age 12 months of abrupt cardiorespiratory[omim.org]

  • Mucopolysaccharidosis

    The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age.[icd9data.com] In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies[rarediseases.org] […] with an affected baby are complicated by a condition called non-immune hydrops fetalis that may be detected on routine ultrasound examination.[rarediseases.org]

  • Bowen's Disease

    In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies[rarediseases.org] […] with an affected baby are complicated by a condition called non-immune hydrops fetalis that may be detected on routine ultrasound examination.[rarediseases.org] The severity of the different MPS disorders varies greatly among affected individuals, even among those with the same type of MPS and even among individuals of the same family[rarediseases.org]

  • Mesenteric Vein Thrombosis

    It's not uncommon for an infant with one variant of the condition to appear normal at birth, though as their diet begins to expand (particularly when protein is introduced[verywellhealth.com] MMA-HCU affects the body's ability to break down certain proteins in the body.[verywellhealth.com]

  • Citrullinemia Type 2

    Affected infants typically appear normal at birth, but as ammonia level in the blood rises they develop symptoms.[omicsonline.org] Affected infants typically appear normal at birth, but as ammonia builds up in the body, they develop a lack of energy (lethargy), poor feeding, vomiting, seizures, and loss[en.wikipedia.org] Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1S

    In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies[rarediseases.org] Infants appear normal at birth.[ncbi.nlm.nih.gov] […] with an affected baby are complicated by a condition called non-immune hydrops fetalis that may be detected on routine ultrasound examination.[rarediseases.org]

Further symptoms